G24S (p.Gly24Ser) variant of KCNE1 (P15382)
G24S (p.Gly24Ser) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- gnomAD 21-34449565-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.60
- PolyPhen-2 0.03
- SIFT 0.47
- 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