R51Q (p.Arg51Gln) variant of GALT (P07902)
R51Q (p.Arg51Gln) 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; 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.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs111033648
- ClinGen CA259331
- ClinVar RCV000022061
- UniProt VAR 023328
- Pathogenic/Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Identification of novel mutations in classical galactosemia. (PMID 15841485)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)