G14D (p.Gly14Asp) variant of SERPINA1 (Alpha-1-antitrypsin)
G14D (p.Gly14Asp) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of SERPINA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- cosmic curated COSV63346
- Uncertain significance
- SERPINA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.59
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (SERPINA1-related disorder)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available