S38N (p.Ser38Asn) variant of C3 (Complement C3)
S38N (p.Ser38Asn) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- TOPMed rs1238527258
- gnomAD rs1238527258
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 7.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available