L6P (p.Leu6Pro) variant of FBN1 (Fibrillin-1)
L6P (p.Leu6Pro) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- ExAC rs774145378
- gnomAD rs774145378
- Missense
- REVEL 0.45
- MetaLR 0.44
- MetaSVM -0.15
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)