V43L (p.Val43Leu) variant of C3 (Complement C3)
V43L (p.Val43Leu) in C3 (Complement C3) 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 0.20 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.12
- CADD 11.10
- PolyPhen-2 0.05
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available