I32N (p.Ile32Asn) variant of GALT (P07902)
I32N (p.Ile32Asn) 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 0.69 / 1. The record also includes published literature and structural context.
I32N (p.Ile32Asn) variant details
- p.Ile32Asn
- rs111033644
- UniProt VAR 002549
- Ensembl rs111033644
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.43
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.16
- 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: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)