K155Q (p.Lys155Gln) variant of C3 (Complement C3)
K155Q (p.Lys155Gln) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of C3 glomerulonephritis; Complement component 3 deficiency; Atypical hemolytic-ure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
K155Q (p.Lys155Gln) variant details
- p.Lys155Gln
- rs147859257
- ClinGen CA213419
- ClinVar RCV000077796
- ClinVar RCV000202831
- Conflicting interpretations
- C3 glomerulonephritis; Complement component 3 deficiency; Atypical hemolytic-ure
- Missense
- Variant Prioritization Score for Impact Estimate 0.0892
- REVEL 0.07
- CADD 7.05
- PolyPhen-2 0.14
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (C3 glomerulonephritis; Complement component 3 deficiency; Atypic)
- EBI: Pathogenic (in ARMD9)
- UniProt: Pathogenic (in ARMD9)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. (PMID 24036949)
- Cited in: A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. (PMID 24036950)