R272H (p.Arg272His) variant of GALT (P07902)
R272H (p.Arg272His) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Galactosemia; not specified; not provided. 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.
R272H (p.Arg272His) variant details
- p.Arg272His
- rs111033831
- ClinGen CA259507
- cosmic curated COSV66592
- ClinVar RCV000022210
- Conflicting interpretations
- Galactosemia; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Galactosemia; not specified; not provided)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)