G8D (p.Gly8Asp) variant of SERPINA1 (Alpha-1-antitrypsin)
G8D (p.Gly8Asp) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- ExAC rs773588978
- TOPMed rs773588978
- gnomAD rs773588978
- Uncertain significance
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- CADD 20.50
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available