G144D (p.Gly144Asp) variant of GLA (Alpha-galactosidase A)
G144D (p.Gly144Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G144D (p.Gly144Asp) variant details
- p.Gly144Asp
- 1000Genomes rs782085638
- ExAC rs782085638
- gnomAD rs782085638
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.93
- AlphaMissense 0.40
- MetaLR 1.00
- MetaSVM 0.90
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available