R148W (p.Arg148Trp) variant of C3 (Complement C3)
R148W (p.Arg148Trp) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R148W (p.Arg148Trp) variant details
- p.Arg148Trp
- NCI-TCGA Cosmic COSV5557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.64
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available