V157I (p.Val157Ile) variant of GALT (P07902)
V157I (p.Val157Ile) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V157I (p.Val157Ile) variant details
- p.Val157Ile
- rs1173928130
- ClinGen CA373280970
- ClinVar RCV001507745
- ClinVar RCV002281776
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.51
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)