Y32C (p.Tyr32Cys) variant of KCNJ5 (P48544)
Y32C (p.Tyr32Cys) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- gnomAD 11-128911368-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.24
- MetaLR 0.52
- MetaSVM -0.47
- CADD 12.40
- PolyPhen-2 0.37
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available