R35L (p.Arg35Leu) variant of C3 (Complement C3)
R35L (p.Arg35Leu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- Ensembl rs1568229734
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available