A44A (p.Ala44Ala) variant of KCNE1 (P15382)
A44A (p.Ala44Ala) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- gnomAD 21-34449503-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0951
- CADD 2.04
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available