T23N (p.Thr23Asn) variant of GALT (P07902)
T23N (p.Thr23Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T23N (p.Thr23Asn) variant details
- p.Thr23Asn
- rs1365354002
- ClinGen CA373278367
- ClinVar RCV001580708
- TOPMed rs1365354002
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.40
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance (in GALAC1)
- UniProt: Uncertain significance (in GALAC1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)