T350N (p.Thr350Asn) variant of GALT (P07902)
T350N (p.Thr350Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T350N (p.Thr350Asn) variant details
- p.Thr350Asn
- rs775317639
- ClinGen CA5036276
- ClinVar RCV001001297
- ClinVar RCV001827154
- Conflicting interpretations
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.93
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)