M173R (p.Met173Arg) variant of C5 (Complement C5)
M173R (p.Met173Arg) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M173R (p.Met173Arg) variant details
- p.Met173Arg
- gnomAD rs1452140635
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available