W167C (p.Trp167Cys) variant of GALT (P07902)
W167C (p.Trp167Cys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Galactosemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W167C (p.Trp167Cys) variant details
- p.Trp167Cys
- rs1407860889
- ClinGen CA373281162
- ClinVar RCV002740865
- gnomAD rs1407860889
- Uncertain significance
- Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Galactosemia)
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely pathogenic (in GALAC1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)