I147V (p.Ile147Val) variant of GALT (P07902)
I147V (p.Ile147Val) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I147V (p.Ile147Val) variant details
- p.Ile147Val
- rs1442155934
- ClinGen CA373280823
- ClinVar RCV003610641
- gnomAD rs1442155934
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.66
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)