G24D (p.Gly24Asp) variant of KCNE1 (P15382)
G24D (p.Gly24Asp) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- ExAC rs756569224
- gnomAD rs756569224
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.08
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37