G70D (p.Gly70Asp) variant of ATXN1 (Ataxin-1)
G70D (p.Gly70Asp) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- gnomAD rs1305953474
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available