R73H (p.Arg73His) variant of FBN2 (Fibrillin-2)
R73H (p.Arg73His) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R73H (p.Arg73His) variant details
- p.Arg73His
- ExAC rs775317100
- TOPMed rs775317100
- gnomAD rs775317100
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.41
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available