T15S (p.Thr15Ser) variant of C3 (Complement C3)
T15S (p.Thr15Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T15S (p.Thr15Ser) variant details
- p.Thr15Ser
- rs776845513
- ClinGen CA403646412
- ClinVar RCV002948670
- TOPMed rs776845513
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.80
- CADD 4.33
- PolyPhen-2 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available