RYR1 variant details of c.14918C>T p.(Pro4973Leu)
| genomic | c.14918C>T |
| protein | p.(Pro4973Leu) |
| exon | 104 |
| EMHG classification | pathogenic |
| EMHG criteria | PPb PPc PMb PSb |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_mod PS4_Strong PP1_strong PM1_Supp PP3_mod |