Q38P (p.Gln38Pro) variant of GALT (P07902)
Q38P (p.Gln38Pro) 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 0.71 / 1. The record also includes published literature and structural context.
Q38P (p.Gln38Pro) variant details
- p.Gln38Pro
- rs111033646
- ClinGen CA259325
- ClinVar RCV003062202
- UniProt VAR 002550
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.61
- MetaLR 0.93
- MetaSVM 1.16
- PolyPhen-2 0.40
- SIFT 0.03
- EVE 0.27
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- 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)