G25C (p.Gly25Cys) variant of KCNE1 (P15382)
G25C (p.Gly25Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- gnomAD 21-34449562-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 0.22
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.34
- Literature evidence available