F88L (p.Phe88Leu) variant of C3 (Complement C3)
F88L (p.Phe88Leu) in C3 (Complement C3) 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 0.10 / 1. The record also includes population frequency data and structural context.
F88L (p.Phe88Leu) variant details
- p.Phe88Leu
- Ensembl rs1968115196
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.07
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available