Q344K (p.Gln344Lys) variant of GALT (P07902)
Q344K (p.Gln344Lys) 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; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. 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.
Q344K (p.Gln344Lys) variant details
- p.Gln344Lys
- rs111033814
- ClinGen CA259572
- ClinVar RCV000022266
- ClinVar RCV000224058
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.91
- CADD 24.80
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Molecular analysis in newborns from Texas affected with galactosemia. (PMID 11754113)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)