R51L (p.Arg51Leu) variant of GALT (P07902)
R51L (p.Arg51Leu) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- rs111033648
- ClinGen CA259330
- ClinVar RCV001964239
- UniProt VAR 002553
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.98
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)