M117V (p.Met117Val) variant of C5 (Complement C5)
M117V (p.Met117Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M117V (p.Met117Val) variant details
- p.Met117Val
- TOPMed rs1202350384
- gnomAD rs1202350384
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -0.97
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available