F9L (p.Phe9Leu) variant of C5 (Complement C5)
F9L (p.Phe9Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
F9L (p.Phe9Leu) variant details
- p.Phe9Leu
- rs776535387
- ClinGen CA5218505
- ClinVar RCV003035052
- ExAC rs776535387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -0.96
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available