G28C (p.Gly28Cys) variant of FBN2 (Fibrillin-2)
G28C (p.Gly28Cys) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- rs772841538
- ClinGen CA3396233
- ClinVar RCV001769185
- ClinVar RCV001868585
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.36
- CADD 21.70
- PolyPhen-2 0.61
- SIFT 0.07
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)