R77Q (p.Arg77Gln) variant of FBN2 (Fibrillin-2)
R77Q (p.Arg77Gln) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- TOPMed rs889066564
- gnomAD rs889066564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- CADD 27.20
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available