V171I (p.Val171Ile) variant of C5 (Complement C5)
V171I (p.Val171Ile) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V171I (p.Val171Ile) variant details
- p.Val171Ile
- ESP rs377669829
- ExAC rs377669829
- TOPMed rs377669829
- gnomAD rs377669829
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- MetaLR 0.44
- MetaSVM -0.34
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available