T20S (p.Thr20Ser) variant of KCNE1 (P15382)
T20S (p.Thr20Ser) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- gnomAD 21-34449577-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 6.56
- PolyPhen-2 0.02
- SIFT 0.35
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.53
- Literature evidence available