H186N (p.His186Asn) variant of GALT (P07902)
H186N (p.His186Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not specified; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
H186N (p.His186Asn) variant details
- p.His186Asn
- rs111033725
- ClinGen CA373281673
- ClinVar RCV000508125
- ClinVar RCV001857269
- Likely pathogenic
- not specified; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (not specified; Deficiency of UDPglucose-hexose-1-phosphate uridy)
- 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)