G17S (p.Gly17Ser) variant of FBN2 (Fibrillin-2)
G17S (p.Gly17Ser) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs1085307788
- ClinGen CA360763286
- ClinVar RCV000489370
- ClinVar RCV002527031
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)