R258H (p.Arg258His) variant of GALT (P07902)
R258H (p.Arg258His) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R258H (p.Arg258His) variant details
- p.Arg258His
- rs773766027
- ClinGen CA5036208
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10112
- Uncertain significance
- not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.88
- AlphaMissense 0.15
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Variant of uncertain significance (in GALAC1)
- UniProt: Uncertain significance (in GALAC1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)