V165A (p.Val165Ala) variant of C3 (Complement C3)
V165A (p.Val165Ala) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V165A (p.Val165Ala) variant details
- p.Val165Ala
- gnomAD rs1445999848
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available