A49V (p.Ala49Val) variant of C3 (Complement C3)
A49V (p.Ala49Val) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- TOPMed rs749153052
- Missense
- Variant Prioritization Score for Impact Estimate 0.0443
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available