D7Y (p.Asp7Tyr) variant of GALT (P07902)
D7Y (p.Asp7Tyr) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- rs1469998825
- ClinGen CA373278218
- ClinVar RCV001863384
- gnomAD rs1469998825
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.35
- CADD 17.40
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)