G25D (p.Gly25Asp) variant of KCNE1 (P15382)
G25D (p.Gly25Asp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- gnomAD 21-34449561-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.85
- PolyPhen-2 0.04
- SIFT 0.39
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.34
- Literature evidence available