V84L (p.Val84Leu) variant of KCNQ2 (O43526)
V84L (p.Val84Leu) in KCNQ2 (O43526) 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 0.57 / 1. The record also includes population frequency data and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.49
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available