G29S (p.Gly29Ser) variant of KCNE1 (P15382)
G29S (p.Gly29Ser) 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.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- gnomAD 21-34449550-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- Literature evidence available