M336L (p.Met336Leu) variant of GALT (P07902)
M336L (p.Met336Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Galactosemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M336L (p.Met336Leu) variant details
- p.Met336Leu
- rs111033810
- ClinGen CA259564
- ClinVar RCV000022261
- ClinVar RCV003480034
- Likely pathogenic
- Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.83
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Likely pathogenic (Galactosemia)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)