L83P (p.Leu83Pro) variant of FBN2 (Fibrillin-2)
L83P (p.Leu83Pro) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L83P (p.Leu83Pro) variant details
- p.Leu83Pro
- rs1756881331
- ClinGen CA360761785
- ClinVar RCV002430920
- TOPMed rs1756881331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.69
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)