G9D (p.Gly9Asp) variant of LAMA3 (Laminin subunit alpha-3)
G9D (p.Gly9Asp) 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 0.12 / 1. The record also includes population frequency data and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- gnomAD rs1197054682
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.02
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available