RYR1 variant details of c.1390C>A p.(Gln464Lys)
| genomic | c.1390C>A |
| protein | p.(Gln464Lys) |
| exon | 13 |
| EMHG classification | pathogenic |
| EMHG criteria | PPa PPb PPc PMb PSb |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS3_mod PS4 supp PP1 supp PM1_mod PP3_mod |