D39D (p.Asp39Asp) variant of KCNE1 (P15382)
D39D (p.Asp39Asp) 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.
D39D (p.Asp39Asp) variant details
- p.Asp39Asp
- rs368465967
- gnomAD 21-34449518-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0963
- CADD 2.21
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available