F9Y (p.Phe9Tyr) variant of C5 (Complement C5)
F9Y (p.Phe9Tyr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
F9Y (p.Phe9Tyr) variant details
- p.Phe9Tyr
- rs763943419
- ClinGen CA5218503
- ClinVar RCV003873845
- ClinVar RCV005537727
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.00
- CADD 24.00
- PolyPhen-2 0.26
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available