N97I (p.Asn97Ile) variant of GALT (P07902)
N97I (p.Asn97Ile) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
N97I (p.Asn97Ile) variant details
- p.Asn97Ile
- rs111033669
- ClinGen CA373279243
- ClinVar RCV001000878
- ExAC rs111033669
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.79
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)