K43E (p.Lys43Glu) variant of FBN1 (Fibrillin-1)
K43E (p.Lys43Glu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
K43E (p.Lys43Glu) variant details
- p.Lys43Glu
- rs751270801
- ClinGen CA044153
- ClinVar RCV001769371
- ExAC rs751270801
- Uncertain significance
- not provided
- Missense
- REVEL 0.32
- AlphaMissense 0.96
- MetaLR 0.32
- MetaSVM -0.52
- CADD 24.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)