A79T (p.Ala79Thr) variant of C3 (Complement C3)
A79T (p.Ala79Thr) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- gnomAD rs1445075668
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.33
- CADD 13.30
- PolyPhen-2 0.17
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available