Q21E (p.Gln21Glu) variant of LAMA2 (Laminin subunit alpha-2)
Q21E (p.Gln21Glu) 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 Congenital muscular dystrophy due to partial LAMA2 deficiency. The record also includes variant effect predictions and population frequency data.
Q21E (p.Gln21Glu) variant details
- p.Gln21Glu
- rs886061039
- ClinGen CA10621354
- ClinVar RCV000327749
- TOPMed rs886061039
- Uncertain significance
- Congenital muscular dystrophy due to partial LAMA2 deficiency
- Missense
- REVEL 0.02
- CADD 7.18
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Congenital muscular dystrophy due to partial LAMA2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)