Q206R (p.Gln206Arg) variant of GALT (P07902)
Q206R (p.Gln206Arg) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Q206R (p.Gln206Arg) variant details
- p.Gln206Arg
- rs1587239309
- ClinGen CA373282050
- ClinVar RCV000805776
- ClinVar RCV006278124
- Pathogenic/Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)