S65C (p.Ser65Cys) variant of C5 (Complement C5)
S65C (p.Ser65Cys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- TOPMed rs2047626375
- gnomAD rs2047626375
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.04
- CADD 21.90
- PolyPhen-2 0.33
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available