Y34N (p.Tyr34Asn) variant of GALT (P07902)
Y34N (p.Tyr34Asn) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y34N (p.Tyr34Asn) variant details
- p.Tyr34Asn
- rs111033836
- ClinGen CA259324
- ClinVar RCV000022052
- ClinVar RCV000726020
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.97
- CADD 32.00
- 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 2.7e-06)
- Structural context available
- Cited in: Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in… (PMID 22461411)
- Cited in: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and… (PMID 25592817)