H68R (p.His68Arg) variant of GALT (P07902)
H68R (p.His68Arg) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H68R (p.His68Arg) variant details
- p.His68Arg
- rs193922247
- ClinGen CA373278729
- ClinVar RCV000673177
- gnomAD rs193922247
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.10
- MetaLR 0.94
- MetaSVM 0.93
- PolyPhen-2 0.61
- SIFT 0.00
- EVE 0.20
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)