A25V (p.Ala25Val) variant of RYR1 (Ryanodine receptor 1)
A25V (p.Ala25Val) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 19-38440773-C-T
- Missense
- REVEL 0.88
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Literature evidence available