I1157T (p.Ile1157Thr) variant of C3 (Complement C3)
I1157T (p.Ile1157Thr) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
I1157T (p.Ile1157Thr) variant details
- p.Ile1157Thr
- rs1918142335
- ClinGen CA403624011
- ClinVar RCV001328273
- ClinVar RCV006279520
- Pathogenic/Likely pathogenic
- not provided; Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.26
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.47
- SIFT 0.08
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (not provided; Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)