A61T (p.Ala61Thr) variant of KCNQ3 (O43525)
A61T (p.Ala61Thr) in KCNQ3 (O43525) 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.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- ExAC rs750884730
- TOPMed rs750884730
- gnomAD rs750884730
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available