S135L (p.Ser135Leu) variant of GALT (P07902)
S135L (p.Ser135Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fetal anomalies with a likely genetic cause; Inborn genetic diseases; Galactosem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S135L (p.Ser135Leu) variant details
- p.Ser135Leu
- rs111033690
- ClinGen CA312565
- ClinVar RCV000003802
- ClinVar RCV000185915
- Pathogenic/Likely pathogenic
- Fetal anomalies with a likely genetic cause; Inborn genetic diseases; Galactosem
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.90
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fetal anomalies with a likely genetic cause; Inborn genetic dise)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Molecular analysis in newborns from Texas affected with galactosemia. (PMID 11754113)
- Cited in: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function… (PMID 1610789)