M298I (p.Met298Ile) variant of GALT (P07902)
M298I (p.Met298Ile) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. 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.
M298I (p.Met298Ile) variant details
- p.Met298Ile
- rs1821187550
- ClinGen CA373284505
- ClinVar RCV001949423
- Ensembl rs1821187550
- Pathogenic/Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)