W53R (p.Trp53Arg) variant of GALT (P07902)
W53R (p.Trp53Arg) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W53R (p.Trp53Arg) variant details
- p.Trp53Arg
- rs1131691837
- ClinGen CA373278634
- ClinVar RCV000672826
- ClinVar RCV005614438
- Uncertain significance
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)