M142K (p.Met142Lys) variant of GALT (P07902)
M142K (p.Met142Lys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GALT-related disorder; Inborn genetic diseases; Galactosemia. 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.
M142K (p.Met142Lys) variant details
- p.Met142Lys
- rs111033695
- ClinGen CA252843
- ClinVar RCV000003793
- ClinVar RCV000185916
- Pathogenic
- GALT-related disorder; Inborn genetic diseases; Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (GALT-related disorder; Inborn genetic diseases; Galactosemia)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)
- Cited in: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate… (PMID 2011574)