L14R (p.Leu14Arg) variant of FBN2 (Fibrillin-2)
L14R (p.Leu14Arg) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs2479828212
- ClinGen CA360763326
- ClinVar RCV004515806
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- 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)