A49S (p.Ala49Ser) variant of C3 (Complement C3)
A49S (p.Ala49Ser) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atypical hemolytic-uremic syndrome with C3 anomaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs1599529587
- ClinGen CA403646186
- ClinVar RCV003388746
- Uncertain significance
- Atypical hemolytic-uremic syndrome with C3 anomaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.33
- SIFT 0.39
- EVE 0.24
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome with C3 anomaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)
- Cited in: Atypical hemolytic-uremic syndrome. (PMID 19846853)