T23A (p.Thr23Ala) variant of GALT (P07902)
T23A (p.Thr23Ala) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- rs111033635
- UniProt VAR 068532
- Ensembl rs111033635
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.06
- MetaLR 0.80
- MetaSVM 0.07
- PolyPhen-2 0.00
- SIFT 0.66
- MutPred 0.81
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Molecular analysis in newborns from Texas affected with galactosemia. (PMID 11754113)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)