V44L (p.Val44Leu) variant of GALT (P07902)
V44L (p.Val44Leu) 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 0.83 / 1. The record also includes published literature and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- rs111033647
- UniProt VAR 002551
- Ensembl rs111033647
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.46
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)