D39E (p.Asp39Glu) variant of KCNE1 (P15382)
D39E (p.Asp39Glu) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- gnomAD 21-34449516-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 18.30
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available