G33R (p.Gly33Arg) variant of LAMA3 (Laminin subunit alpha-3)
G33R (p.Gly33Arg) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs1363412150
- ClinGen CA402233200
- ClinVar RCV003184811
- gnomAD rs1363412150
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0623
- REVEL 0.02
- CADD 7.51
- PolyPhen-2 0.66
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)