G10C (p.Gly10Cys) variant of KCNQ4 (P56696)
G10C (p.Gly10Cys) in KCNQ4 (P56696) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- TOPMed rs1170668900
- gnomAD rs1170668900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.44
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available