P75R (p.Pro75Arg) variant of FBN1 (Fibrillin-1)
P75R (p.Pro75Arg) 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 and published literature.
P75R (p.Pro75Arg) variant details
- p.Pro75Arg
- rs1555405654
- ClinGen CA392448272
- ClinVar RCV000659500
- ClinVar RCV004807076
- Uncertain significance
- Missense
- AlphaMissense 0.65
- MetaLR 0.46
- MetaSVM 0.04
- SIFT 0.00
- MutPred 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)