S38C (p.Ser38Cys) variant of KCNE1 (P15382)
S38C (p.Ser38Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- gnomAD 21-34449523-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 12.30
- PolyPhen-2 0.31
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available