T20K (p.Thr20Lys) variant of KCNE1 (P15382)
T20K (p.Thr20Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T20K (p.Thr20Lys) variant details
- p.Thr20Lys
- gnomAD 21-34449576-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 4.44
- PolyPhen-2 0.05
- SIFT 0.25
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.53
- Literature evidence available