R157I (p.Arg157Ile) variant of C5 (Complement C5)
R157I (p.Arg157Ile) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R157I (p.Arg157Ile) variant details
- p.Arg157Ile
- TOPMed rs2047542620
- gnomAD rs2047542620
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.61
- MetaLR 0.63
- MetaSVM 0.36
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available