Q21R (p.Gln21Arg) variant of LAMA2 (Laminin subunit alpha-2)
Q21R (p.Gln21Arg) 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.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- rs1775917787
- ClinGen CA365828266
- ClinVar RCV001156177
- Ensembl rs1775917787
- Uncertain significance
- Congenital muscular dystrophy due to partial LAMA2 deficiency
- Missense
- REVEL 0.01
- CADD 6.50
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Congenital muscular dystrophy due to partial LAMA2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available