H16Q (p.His16Gln) variant of C3 (Complement C3)
H16Q (p.His16Gln) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement com. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H16Q (p.His16Gln) variant details
- p.His16Gln
- rs184455094
- ClinGen CA9129922
- ClinVar RCV001130718
- ClinVar RCV001130719
- Conflicting interpretations
- not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement com
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.13
- AlphaMissense 0.30
- MetaLR 0.28
- MetaSVM -0.78
- CADD 8.71
- PolyPhen-2 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; Atypical hemolytic-uremic syndrome with C3 anomaly)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.0098)
- 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)