S4A (p.Ser4Ala) variant of KCNE1 (P15382)
S4A (p.Ser4Ala) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- gnomAD 21-34449625-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.26
- Literature evidence available