H87N (p.His87Asn) variant of FBN1 (Fibrillin-1)
H87N (p.His87Asn) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
H87N (p.His87Asn) variant details
- p.His87Asn
- ExAC rs747008489
- TOPMed rs747008489
- gnomAD rs747008489
- Missense
- REVEL 0.29
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 0.92
- Population evidence available