A35V (p.Ala35Val) variant of C5 (Complement C5)
A35V (p.Ala35Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD rs1351694798
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.87
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available