A33E (p.Ala33Glu) variant of LAMA2 (Laminin subunit alpha-2)
A33E (p.Ala33Glu) 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; Congenital muscular dystrophy due to partial LAMA2 defi. The record also includes variant effect predictions, population frequency data, and published literature.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- rs750280423
- ClinGen CA3992208
- NCI-TCGA Cosmic COSV7035
- cosmic curated COSV70350
- Uncertain significance
- Inborn genetic diseases; Congenital muscular dystrophy due to partial LAMA2 defi
- Missense
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital muscular dystrophy due to pa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- 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)