K65Q (p.Lys65Gln) variant of C3 (Complement C3)
K65Q (p.Lys65Gln) 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 specified; not provided; Age related macular degeneration 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K65Q (p.Lys65Gln) variant details
- p.Lys65Gln
- rs539992721
- ClinGen CA9129883
- ClinVar RCV000427027
- ClinVar RCV001328274
- Conflicting interpretations
- not specified; not provided; Age related macular degeneration 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.67
- AlphaMissense 0.28
- MetaLR 0.65
- MetaSVM 0.33
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Age related macular degeneration 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00096)
- 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)