G85R (p.Gly85Arg) variant of FBN2 (Fibrillin-2)
G85R (p.Gly85Arg) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- Ensembl rs1561504792
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available