R39Q (p.Arg39Gln) variant of FBN2 (Fibrillin-2)
R39Q (p.Arg39Gln) in FBN2 (Fibrillin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs753160272
- cosmic curated COSV10586
- ExAC rs753160272
- gnomAD rs753160272
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available