R48Q (p.Arg48Gln) variant of FBN2 (Fibrillin-2)
R48Q (p.Arg48Gln) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- ExAC rs779831723
- TOPMed rs779831723
- gnomAD rs779831723
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.54
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available