Q79L (p.Gln79Leu) variant of FBN1 (Fibrillin-1)
Q79L (p.Gln79Leu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
Q79L (p.Gln79Leu) variant details
- p.Gln79Leu
- TOPMed rs1338775496
- Uncertain significance
- Missense
- REVEL 0.65
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available