G31A (p.Gly31Ala) variant of KCNQ3 (O43525)
G31A (p.Gly31Ala) in KCNQ3 (O43525) 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 0.43 / 1. The record also includes population frequency data and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- TOPMed rs1011750724
- gnomAD rs1011750724
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available