T151S (p.Thr151Ser) variant of C3 (Complement C3)
T151S (p.Thr151Ser) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Age related macular degeneration 9; Complement component 3 defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T151S (p.Thr151Ser) variant details
- p.Thr151Ser
- rs1968082456
- ClinGen CA403644968
- ClinVar RCV001878434
- ClinVar RCV002503393
- Uncertain significance
- not specified; Age related macular degeneration 9; Complement component 3 defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- CADD 19.50
- PolyPhen-2 0.18
- SIFT 0.55
- ClinVar: Uncertain significance (not specified; Age related macular degeneration 9; Complement co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)