C18S (p.Cys18Ser) variant of FBN2 (Fibrillin-2)
C18S (p.Cys18Ser) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- rs1033004512
- ClinGen CA127059272
- ClinVar RCV001936347
- ClinVar RCV005622142
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)