G299D (p.Gly299Asp) variant of GALT (P07902)
G299D (p.Gly299Asp) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G299D (p.Gly299Asp) variant details
- p.Gly299Asp
- rs2492873622
- ClinGen CA373284520
- ClinVar RCV003837740
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.97
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)