D18V (p.Asp18Val) variant of RYR2 (Ryanodine receptor 2)
D18V (p.Asp18Val) in RYR2 (Ryanodine receptor 2) is a missense change. The record also includes variant effect predictions and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- Ensembl rs1689571472
- Missense
- MetaLR 0.91
- MetaSVM 0.97
- SIFT 0.00
- Structural context available