A3G (p.Ala3Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3G (p.Ala3Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs794728543
- ClinGen CA008561
- ClinVar RCV000182241
- Ensembl rs794728543
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.86
- MetaSVM 0.77
- CADD 22.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available