M173V (p.Met173Val) variant of C5 (Complement C5)
M173V (p.Met173Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M173V (p.Met173Val) variant details
- p.Met173Val
- ExAC rs770052563
- TOPMed rs770052563
- gnomAD rs770052563
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available