W17C (p.Trp17Cys) variant of KCNE1 (P15382)
W17C (p.Trp17Cys) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W17C (p.Trp17Cys) variant details
- p.Trp17Cys
- gnomAD 21-34449583-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 25.70
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35
- Literature evidence available