D28N (p.Asp28Asn) variant of GALT (P07902)
D28N (p.Asp28Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- rs111033636
- ClinGen CA261025
- ClinVar RCV000031852
- Ensembl rs111033636
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.57
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 0.97
- CADD 34.00
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance (in GALAC1)
- UniProt: Uncertain significance (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)