K31N (p.Lys31Asn) variant of RYR3 (Ryanodine receptor 3)
K31N (p.Lys31Asn) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- gnomAD 15-33473460-G-T
- Missense
- MetaLR 0.88
- MetaSVM 0.81
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available