P98S (p.Pro98Ser) variant of C5 (Complement C5)
P98S (p.Pro98Ser) 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 0.28 / 1. The record also includes structural context.
P98S (p.Pro98Ser) variant details
- p.Pro98Ser
- rs1472937845
- ClinGen CA374730164
- ClinVar RCV002740659
- TOPMed rs1472937845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available