V152I (p.Val152Ile) variant of C3 (Complement C3)
V152I (p.Val152Ile) 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 0.29 / 1. The record also includes population frequency data and structural context.
V152I (p.Val152Ile) variant details
- p.Val152Ile
- rs766880159
- NCI-TCGA Cosmic COSV9983
- ExAC rs766880159
- TOPMed rs766880159
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.30
- CADD 10.40
- PolyPhen-2 0.15
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available