T10K (p.Thr10Lys) variant of KCNE1 (P15382)
T10K (p.Thr10Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T10K (p.Thr10Lys) variant details
- p.Thr10Lys
- gnomAD 21-34449606-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.91
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.42
- Literature evidence available