A8T (p.Ala8Thr) variant of KCNQ3 (O43525)
A8T (p.Ala8Thr) in KCNQ3 (O43525) is a missense change. 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.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- TOPMed rs1163952756
- gnomAD rs1163952756
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available