A49V (p.Ala49Val) variant of C5 (Complement C5)
A49V (p.Ala49Val) in C5 (Complement C5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- Ensembl rs2047627115
- Uncertain significance
- Missense
- MetaLR 0.07
- MetaSVM -1.04
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available