G30A (p.Gly30Ala) variant of KCNQ2 (O43526)
G30A (p.Gly30Ala) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- TOPMed rs1371970279
- gnomAD rs1371970279
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.52
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available