G24C (p.Gly24Cys) variant of KCNE1 (P15382)
G24C (p.Gly24Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- gnomAD 21-34449565-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.70
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- Literature evidence available