T350I (p.Thr350Ile) variant of GALT (P07902)
T350I (p.Thr350Ile) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T350I (p.Thr350Ile) variant details
- p.Thr350Ile
- rs775317639
- ClinGen CA373285315
- ClinVar RCV000594103
- ClinVar RCV001867922
- Conflicting interpretations
- not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)