R28G (p.Arg28Gly) variant of LMNA (Prelamin-A/C)
R28G (p.Arg28Gly) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs59914820
- ClinGen CA358140
- ClinVar RCV000210645
- gnomAD rs59914820
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)