V43L (p.Val43Leu) variant of KCNQ3 (O43525)
V43L (p.Val43Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.33
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available