T20A (p.Thr20Ala) variant of KCNE1 (P15382)
T20A (p.Thr20Ala) 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, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- Ensembl rs1981052366
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.24
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.53