M117I (p.Met117Ile) variant of C5 (Complement C5)
M117I (p.Met117Ile) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
M117I (p.Met117Ile) variant details
- p.Met117Ile
- rs757295064
- ClinGen CA5218421
- ClinVar RCV004166412
- ExAC rs757295064
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.01
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available