R67C (p.Arg67Cys) variant of GALT (P07902)
R67C (p.Arg67Cys) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs111033658
- ClinGen CA259339
- ClinVar RCV000022067
- ClinVar RCV000723719
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.83
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.46
- CADD 27.90
- PolyPhen-2 0.00
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. (PMID 8598637)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)