G55C (p.Gly55Cys) variant of GALT (P07902)
G55C (p.Gly55Cys) 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 0.98 / 1. The record also includes published literature and structural context.
G55C (p.Gly55Cys) variant details
- p.Gly55Cys
- rs111033654
- ClinGen CA259334
- ClinVar RCV000767304
- UniProt VAR 002554
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. (PMID 8741038)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)