G13R (p.Gly13Arg) variant of LMNA (Prelamin-A/C)
G13R (p.Gly13Arg) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs1649700208
- ClinGen CA342806921
- ClinVar RCV001170448
- Ensembl rs1649700208
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)