G25A (p.Gly25Ala) variant of KCNE1 (P15382)
G25A (p.Gly25Ala) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD 21-34449560-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 19.60
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.34
- Literature evidence available