A4A (p.Ala4Ala) variant of RYR1 (Ryanodine receptor 1)
A4A (p.Ala4Ala) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 19-38433841-A-C
- Synonymous
- CADD 15.30
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available