R258C (p.Arg258Cys) variant of GALT (P07902)
R258C (p.Arg258Cys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R258C (p.Arg258Cys) variant details
- p.Arg258Cys
- rs368166217
- ClinGen CA266764
- cosmic curated COSV66593
- ClinVar RCV000078235
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- AlphaMissense 0.26
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)