R157S (p.Arg157Ser) variant of C5 (Complement C5)
R157S (p.Arg157Ser) in C5 (Complement C5) 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 0.48 / 1. The record also includes population frequency data and structural context.
R157S (p.Arg157Ser) variant details
- p.Arg157Ser
- rs776071022
- ClinGen CA199397290
- ClinVar RCV002626208
- Ensembl rs776071022
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.53
- MetaLR 0.46
- MetaSVM -0.20
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available