R24G (p.Arg24Gly) variant of LAMA2 (Laminin subunit alpha-2)
R24G (p.Arg24Gly) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; LAMA2-related muscular dystrophy; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs868408509
- ClinGen CA365828284
- ClinVar RCV001756333
- ClinVar RCV001882815
- Uncertain significance
- Inborn genetic diseases; LAMA2-related muscular dystrophy; not provided
- Missense
- REVEL 0.04
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases; LAMA2-related muscular dystrophy; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- 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)