M173I (p.Met173Ile) variant of C5 (Complement C5)
M173I (p.Met173Ile) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
M173I (p.Met173Ile) variant details
- p.Met173Ile
- gnomAD rs1393962385
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -0.89
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available