H29N (p.His29Asn) variant of RYR2 (Ryanodine receptor 2)
H29N (p.His29Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H29N (p.His29Asn) variant details
- p.His29Asn
- gnomAD 1-237270533-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.53
- MetaLR 0.81
- MetaSVM 0.65
- CADD 19.10
- PolyPhen-2 0.20
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available