F9V (p.Phe9Val) variant of C5 (Complement C5)
F9V (p.Phe9Val) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F9V (p.Phe9Val) variant details
- p.Phe9Val
- rs776535387
- ClinGen CA5218504
- ClinVar RCV001884517
- ExAC rs776535387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -0.95
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available