Q22K (p.Gln22Lys) variant of KCNE1 (P15382)
Q22K (p.Gln22Lys) 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.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- gnomAD 21-34449571-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.07
- PolyPhen-2 0.03
- SIFT 0.34
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available