K15M (p.Lys15Met) variant of KCNE1 (P15382)
K15M (p.Lys15Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15M (p.Lys15Met) variant details
- p.Lys15Met
- gnomAD 21-34449591-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 9.67
- PolyPhen-2 0.46
- SIFT 0.03
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.56
- Literature evidence available