K43T (p.Lys43Thr) variant of FBN1 (Fibrillin-1)
K43T (p.Lys43Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
K43T (p.Lys43Thr) variant details
- p.Lys43Thr
- rs766081333
- ClinGen CA044201
- ClinVar RCV001064440
- ClinVar RCV004000141
- Uncertain significance
- Missense
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.57
- CADD 24.70
- PolyPhen-2 0.05
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)