D28Y (p.Asp28Tyr) variant of GALT (P07902)
D28Y (p.Asp28Tyr) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D28Y (p.Asp28Tyr) variant details
- p.Asp28Tyr
- rs111033636
- ClinVar RCV005238451
- UniProt VAR 002548
- Ensembl rs111033636
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 0.97
- CADD 36.00
- PolyPhen-2 0.04
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel… (PMID 9222760)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)