P7S (p.Pro7Ser) variant of C3 (Complement C3)
P7S (p.Pro7Ser) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs998953544
- ClinGen CA304805651
- ClinVar RCV003731152
- TOPMed rs998953544
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.08
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available