R39G (p.Arg39Gly) variant of FBN2 (Fibrillin-2)
R39G (p.Arg39Gly) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- rs763202121
- ClinGen CA16618113
- ClinVar RCV000480894
- ClinVar RCV002525965
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.32
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)