K285N (p.Lys285Asn) variant of GALT (P07902)
K285N (p.Lys285Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Galactosemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K285N (p.Lys285Asn) variant details
- p.Lys285Asn
- rs111033773
- ClinGen CA340107
- ClinVar RCV000003805
- ClinVar RCV000224446
- Pathogenic
- Inborn genetic diseases; Galactosemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.88
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; Galactosemia; not provided)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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 analysis in newborns from Texas affected with galactosemia. (PMID 11754113)