R48C (p.Arg48Cys) variant of GALT (P07902)
R48C (p.Arg48Cys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Deficiency of UDPglucose-hexose-1-phosphate uridyly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs886042088
- ClinGen CA10603796
- ClinVar RCV000273060
- ClinVar RCV003463740
- Conflicting interpretations
- not provided; not specified; Deficiency of UDPglucose-hexose-1-phosphate uridyly
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Deficiency of UDPglucose-hexose-1-p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)