A49E (p.Ala49Glu) variant of C3 (Complement C3)
A49E (p.Ala49Glu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- TOPMed rs749153052
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.07
- CADD 0.00
- PolyPhen-2 0.08
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available