S36C (p.Ser36Cys) variant of C5 (Complement C5)
S36C (p.Ser36Cys) 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 0.36 / 1. The record also includes structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- rs2131823079
- ClinGen CA374733086
- ClinVar RCV001984440
- Ensembl rs2131823079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.23
- MetaLR 0.13
- MetaSVM -0.68
- PolyPhen-2 0.94
- SIFT 0.10
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available