R272C (p.Arg272Cys) variant of GALT (P07902)
R272C (p.Arg272Cys) 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; GALT-related disorder; Deficiency of UDPglucose-hexose-1-phosphate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R272C (p.Arg272Cys) variant details
- p.Arg272Cys
- rs111033766
- ClinGen CA5036218
- cosmic curated COSV10112
- ClinVar RCV000664855
- Pathogenic/Likely pathogenic
- Galactosemia; GALT-related disorder; Deficiency of UDPglucose-hexose-1-phosphate
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.92
- AlphaMissense 0.35
- MetaLR 0.98
- MetaSVM 1.04
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; GALT-related disorder; Deficiency of UDPglucose-he)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)