G78R (p.Gly78Arg) variant of FBN2 (Fibrillin-2)
G78R (p.Gly78Arg) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- TOPMed rs1469224204
- gnomAD rs1469224204
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.52
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available