A9V (p.Ala9Val) variant of KCNQ3 (O43525)
A9V (p.Ala9Val) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD rs1359649725
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available