S143L (p.Ser143Leu) variant of GALT (P07902)
S143L (p.Ser143Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S143L (p.Ser143Leu) variant details
- p.Ser143Leu
- rs111033697
- ClinGen CA259391
- ClinVar RCV000022111
- ClinVar RCV001831617
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 1.20
- CADD 24.30
- PolyPhen-2 0.82
- 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 South Asian population (allele frequency 0.00021)
- 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)