Q23H (p.Gln23His) variant of KCNE1 (P15382)
Q23H (p.Gln23His) 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, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 21-34449566-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 14.00
- PolyPhen-2 0.29
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available