P83H (p.Pro83His) variant of FBN1 (Fibrillin-1)
P83H (p.Pro83His) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P83H (p.Pro83His) variant details
- p.Pro83His
- gnomAD rs1206249804
- Uncertain significance
- Missense
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available