A62G (p.Ala62Gly) variant of KCNQ2 (O43526)
A62G (p.Ala62Gly) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A62G (p.Ala62Gly) variant details
- p.Ala62Gly
- TOPMed rs796052612
- gnomAD rs796052612
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.36
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available