C60Y (p.Cys60Tyr) variant of KCNJ5 (P48544)
C60Y (p.Cys60Tyr) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- gnomAD 11-128911452-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available