T14A (p.Thr14Ala) variant of KCNE1 (P15382)
T14A (p.Thr14Ala) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- gnomAD 21-34449595-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.93
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.44
- Literature evidence available