R11H (p.Arg11His) variant of GALT (P07902)
R11H (p.Arg11His) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosphate uridylyltra. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs757632977
- ClinGen CA5035990
- ClinVar RCV000686259
- ClinVar RCV001276327
- Uncertain significance
- Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosphate uridylyltra
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.36
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)