R11G (p.Arg11Gly) variant of GALT (P07902)
R11G (p.Arg11Gly) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs1172080423
- ClinGen CA373278251
- ClinVar RCV003035981
- TOPMed rs1172080423
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.92
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.25
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)