Y32H (p.Tyr32His) variant of KCNJ5 (P48544)
Y32H (p.Tyr32His) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y32H (p.Tyr32His) variant details
- p.Tyr32His
- gnomAD 11-128911367-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.12
- MetaLR 0.53
- MetaSVM -0.60
- CADD 8.18
- PolyPhen-2 0.17
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available