P325L (p.Pro325Leu) variant of GALT (P07902)
P325L (p.Pro325Leu) 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; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P325L (p.Pro325Leu) variant details
- p.Pro325Leu
- rs111033794
- ClinGen CA259554
- ClinVar RCV000022250
- ClinVar RCV001091819
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.97
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel… (PMID 9222760)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)