R48L (p.Arg48Leu) variant of FBN2 (Fibrillin-2)
R48L (p.Arg48Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- rs779831723
- ClinGen CA3396213
- ClinVar RCV002278025
- ClinVar RCV002278026
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)