E202K (p.Glu202Lys) variant of GALT (P07902)
E202K (p.Glu202Lys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
E202K (p.Glu202Lys) variant details
- p.Glu202Lys
- rs2132344159
- ClinGen CA373281991
- ClinVar RCV002024605
- Ensembl rs2132344159
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.45
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 0.82
- SIFT 0.66
- EVE 0.09
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)