R259Q (p.Arg259Gln) variant of GALT (P07902)
R259Q (p.Arg259Gln) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R259Q (p.Arg259Gln) variant details
- p.Arg259Gln
- rs886042070
- ClinGen CA10603771
- ClinVar RCV000319697
- ClinVar RCV000723422
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.31
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in… (PMID 22461411)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)