A27V (p.Ala27Val) variant of C5 (Complement C5)
A27V (p.Ala27Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- TOPMed rs1311952754
- gnomAD rs1311952754
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.27
- MetaLR 0.21
- MetaSVM -0.69
- CADD 26.80
- PolyPhen-2 0.64
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available