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
- MetaLR 0.18
- MetaSVM -0.70
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)