A33V (p.Ala33Val) variant of LAMA2 (Laminin subunit alpha-2)
A33V (p.Ala33Val) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- ExAC rs750280423
- TOPMed rs750280423
- gnomAD rs750280423
- Uncertain significance
- Missense
- REVEL 0.10
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available