A320V (p.Ala320Val) variant of GALT (P07902)
A320V (p.Ala320Val) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
A320V (p.Ala320Val) variant details
- p.Ala320Val
- rs367543272
- ClinVar RCV006538922
- Ensembl rs367543272
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.57
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)