RYR1 variant details of c.14471T>C p.(Leu4824Pro)
| genomic | c.14471T>C |
| protein | p.(Leu4824Pro) |
| exon | 100 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Mod PM1_Sup PP3_Mod |
| genomic | c.14471T>C |
| protein | p.(Leu4824Pro) |
| exon | 100 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Mod PM1_Sup PP3_Mod |