H29R (p.His29Arg) variant of GALT (P07902)
H29R (p.His29Arg) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs2132341442
- ClinGen CA373278465
- ClinVar RCV001998181
- Ensembl rs2132341442
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- AlphaMissense 0.62
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.60
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)