R94K (p.Arg94Lys) variant of C3 (Complement C3)
R94K (p.Arg94Lys) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R94K (p.Arg94Lys) variant details
- p.Arg94Lys
- Ensembl rs1968089454
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.01
- CADD 2.06
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available