A49T (p.Ala49Thr) variant of C3 (Complement C3)
A49T (p.Ala49Thr) in C3 (Complement C3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- NCI-TCGA Cosmic COSV5557
- TOPMed rs1599529587
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.04
- CADD 7.91
- PolyPhen-2 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available