G28S (p.Gly28Ser) variant of FBN2 (Fibrillin-2)
G28S (p.Gly28Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available