A5V (p.Ala5Val) variant of KCNQ3 (O43525)
A5V (p.Ala5Val) in KCNQ3 (O43525) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available