A61D (p.Ala61Asp) variant of KCNQ3 (O43525)
A61D (p.Ala61Asp) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A61D (p.Ala61Asp) variant details
- p.Ala61Asp
- ExAC rs768194589
- gnomAD rs768194589
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.45
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.31
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available