R39P (p.Arg39Pro) variant of FBN2 (Fibrillin-2)
R39P (p.Arg39Pro) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- rs753160272
- ClinGen CA360762737
- ClinVar RCV002330019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.51
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)