R99P (p.Arg99Pro) variant of LMNA (Prelamin-A/C)
R99P (p.Arg99Pro) 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 Primary familial dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R99P (p.Arg99Pro) variant details
- p.Arg99Pro
- rs1572332762
- ClinGen CA342808671
- ClinVar RCV000845422
- TOPMed rs1572332762
- Likely pathogenic
- Primary familial dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Primary familial dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)