K31E (p.Lys31Glu) variant of RYR3 (Ryanodine receptor 3)
K31E (p.Lys31Glu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- cosmic curated COSV10443
- ExAC rs777177685
- gnomAD rs777177685
- Missense
- MetaLR 0.89
- MetaSVM 0.88
- CADD 24.30
- PolyPhen-2 0.74
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 0.00022)