R35W (p.Arg35Trp) variant of C3 (Complement C3)
R35W (p.Arg35Trp) 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 0.43 / 1. The record also includes population frequency data and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs1218842967
- NCI-TCGA Cosmic COSV5557
- gnomAD rs1218842967
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.25
- CADD 19.50
- PolyPhen-2 0.41
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available