R8H (p.Arg8His) variant of LMNA (Prelamin-A/C)
R8H (p.Arg8His) 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 Cardiovascular phenotype; Familial partial lipodystrophy, Dunnigan type; Congeni. 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.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs1329278578
- ClinGen CA342806023
- ClinVar RCV001072091
- ClinVar RCV002445371
- Uncertain significance
- Cardiovascular phenotype; Familial partial lipodystrophy, Dunnigan type; Congeni
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.42
- ESM-1b 0.31
- AlphaMissense 0.47
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial partial lipodystrophy, Dunnig)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)