F171S (p.Phe171Ser) variant of GALT (P07902)
F171S (p.Phe171Ser) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Galactosemia; 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.
F171S (p.Phe171Ser) variant details
- p.Phe171Ser
- rs111033715
- ClinGen CA340106
- ClinVar RCV000003800
- ClinVar RCV000723392
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Galactosemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Galactosemia; not provided)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function… (PMID 1610789)
- Cited in: Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel… (PMID 23022339)