RYR1 variant details of c.487C>T p.(Arg163Cys)
| genomic | c.487C>T |
| protein | p.(Arg163Cys) |
| exon | 6 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4 PM1_Sup PM5_Sup PP1_Strong PP3_Mod BS2_Mod |