R296P (p.Arg296Pro) variant of LMNA (Prelamin-A/C)
R296P (p.Arg296Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial partial lipodystrophy, Dunnigan type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R296P (p.Arg296Pro) variant details
- p.Arg296Pro
- rs1024051591
- ClinGen CA342817767
- ClinVar RCV001212279
- TOPMed rs1024051591
- Likely pathogenic
- Familial partial lipodystrophy, Dunnigan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial partial lipodystrophy, Dunnigan type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)