A1094V (p.Ala1094Val) variant of C3 (Complement C3)
A1094V (p.Ala1094Val) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atypical hemolytic-uremic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
A1094V (p.Ala1094Val) variant details
- p.Ala1094Val
- rs121909584
- ClinGen CA257693
- ClinVar RCV000018590
- ClinVar RCV005862726
- Likely pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.16
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.55
- SIFT 0.12
- EVE 0.34
- ClinVar: Likely pathogenic (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS5)
- UniProt: Pathogenic (in AHUS5)
- Structural context available
- Cited in: Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. (PMID 18796626)
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)