Y286C (p.Tyr286Cys) variant of GALT (P07902)
Y286C (p.Tyr286Cys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y286C (p.Tyr286Cys) variant details
- p.Tyr286Cys
- rs367543262
- ClinGen CA259518
- ClinVar RCV000022219
- gnomAD rs367543262
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.98
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.99
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)