D17A (p.Asp17Ala) variant of KCNQ3 (O43525)
D17A (p.Asp17Ala) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D17A (p.Asp17Ala) variant details
- p.Asp17Ala
- ExAC rs763797355
- gnomAD rs763797355
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available