A14T (p.Ala14Thr) variant of GALT (P07902)
A14T (p.Ala14Thr) 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.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs750690794
- ClinGen CA5035992
- ClinVar RCV003116122
- ExAC rs750690794
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.39
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)