H68P (p.His68Pro) variant of GALT (P07902)
H68P (p.His68Pro) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyly. 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.
H68P (p.His68Pro) variant details
- p.His68Pro
- rs193922247
- ClinGen CA260400
- ClinVar RCV000029806
- ClinVar RCV000723445
- Conflicting interpretations
- not specified; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyly
- 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: Conflicting classifications of pathogenicity (not specified; not provided; Deficiency of UDPglucose-hexose-1-p)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)