G9A (p.Gly9Ala) variant of KCNQ2 (O43526)
G9A (p.Gly9Ala) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- TOPMed rs1392647178
- gnomAD rs1392647178
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.49
- CADD 24.70
- PolyPhen-2 0.66
- SIFT 0.04
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available