R76Q (p.Arg76Gln) variant of FBN2 (Fibrillin-2)
R76Q (p.Arg76Gln) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- gnomAD rs1213558546
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.49
- CADD 30.00
- PolyPhen-2 0.89
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available