S58R (p.Ser58Arg) variant of C5 (Complement C5)
S58R (p.Ser58Arg) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S58R (p.Ser58Arg) variant details
- p.Ser58Arg
- gnomAD rs1180648261
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.36
- MetaLR 0.16
- MetaSVM -0.88
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available