R4G (p.Arg4Gly) variant of FBN2 (Fibrillin-2)
R4G (p.Arg4Gly) 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.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs1167203759
- ClinGen CA360763645
- ClinVar RCV003831779
- gnomAD rs1167203759
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.37
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.01
- 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)