Q79L (p.Gln79Leu) variant of FBN1 (Fibrillin-1)
Q79L (p.Gln79Leu) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
Q79L (p.Gln79Leu) variant details
- p.Gln79Leu
- TOPMed rs1338775496
- Missense
- REVEL 0.65
- MetaLR 0.49
- MetaSVM -0.08
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)