A320T (p.Ala320Thr) variant of GALT (P07902)
A320T (p.Ala320Thr) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A320T (p.Ala320Thr) variant details
- p.Ala320Thr
- rs111033795
- ClinGen CA259544
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10053
- Conflicting interpretations
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.98
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)