E271D (p.Glu271Asp) variant of GALT (P07902)
E271D (p.Glu271Asp) 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; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E271D (p.Glu271Asp) variant details
- p.Glu271Asp
- rs1262475195
- ClinGen CA373284036
- ClinVar RCV003062205
- ClinVar RCV004790326
- Pathogenic/Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.93
- CADD 21.80
- PolyPhen-2 0.52
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and… (PMID 25592817)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)