G28R (p.Gly28Arg) variant of FBN2 (Fibrillin-2)
G28R (p.Gly28Arg) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- rs772841538
- ClinGen CA360763033
- ClinVar RCV001154433
- ExAC rs772841538
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.36
- CADD 17.00
- PolyPhen-2 0.29
- SIFT 0.06
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)