H23L (p.His23Leu) variant of FBN1 (Fibrillin-1)
H23L (p.His23Leu) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
H23L (p.His23Leu) variant details
- p.His23Leu
- Ensembl rs2140787715
- Missense
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available