A62T (p.Ala62Thr) variant of KCNQ2 (O43526)
A62T (p.Ala62Thr) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- TOPMed rs2082235997
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.25
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available