G2R (p.Gly2Arg) variant of FBN2 (Fibrillin-2)
G2R (p.Gly2Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available