A27V (p.Ala27Val) variant of RYR3 (Ryanodine receptor 3)
A27V (p.Ala27Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 15-33473447-C-T
- Missense
- MetaLR 0.91
- MetaSVM 1.05
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available