Y71H (p.Tyr71His) variant of KCNJ5 (P48544)
Y71H (p.Tyr71His) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y71H (p.Tyr71His) variant details
- p.Tyr71His
- gnomAD 11-128911484-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.72
- MetaLR 0.90
- MetaSVM 0.88
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available