A44S (p.Ala44Ser) variant of KCNE1 (P15382)
A44S (p.Ala44Ser) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD 21-34449505-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.20
- PolyPhen-2 0.72
- SIFT 0.01
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available