N60H (p.Asn60His) variant of KCNJ2 (P63252)
N60H (p.Asn60His) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
N60H (p.Asn60His) variant details
- p.Asn60His
- gnomAD 17-70175217-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- MetaLR 0.80
- MetaSVM 0.63
- CADD 23.50
- PolyPhen-2 0.54
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available