R6S (p.Arg6Ser) variant of FBN2 (Fibrillin-2)
R6S (p.Arg6Ser) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs758464000
- ClinGen CA360763561
- ClinVar RCV003027476
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.52
- CADD 21.70
- PolyPhen-2 0.25
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)