R148Q (p.Arg148Gln) variant of C3 (Complement C3)
R148Q (p.Arg148Gln) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of C3 glomerulonephritis; Complement component 3 deficiency; Age related macular de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- rs886054657
- ClinGen CA10643358
- ClinVar RCV000291131
- ClinVar RCV000346017
- Uncertain significance
- C3 glomerulonephritis; Complement component 3 deficiency; Age related macular de
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.63
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.60
- CADD 26.10
- PolyPhen-2 0.21
- ClinVar: Uncertain significance (C3 glomerulonephritis; Complement component 3 deficiency; Age re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)