A8A (p.Ala8Ala) variant of KCNE1 (P15382)
A8A (p.Ala8Ala) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs144094344
- gnomAD 21-34449611-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0841
- CADD 0.54
- Most common in the 1KG:JPT population (allele frequency 0.0064)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.39
- Literature evidence available