R73S (p.Arg73Ser) variant of FBN2 (Fibrillin-2)
R73S (p.Arg73Ser) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R73S (p.Arg73Ser) variant details
- p.Arg73Ser
- rs148493036
- ClinGen CA323258
- ClinVar RCV000198722
- ClinVar RCV001484140
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.57
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely 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)