A44P (p.Ala44Pro) variant of KCNE1 (P15382)
A44P (p.Ala44Pro) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- gnomAD 21-34449504-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 24.90
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Literature evidence available