G2E (p.Gly2Glu) variant of FBN2 (Fibrillin-2)
G2E (p.Gly2Glu) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- rs976599275
- ClinGen CA127059361
- ClinVar RCV001224738
- TOPMed rs976599275
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.48
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)