R272L (p.Arg272Leu) variant of GALT (P07902)
R272L (p.Arg272Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R272L (p.Arg272Leu) variant details
- p.Arg272Leu
- rs111033831
- ClinGen CA373284047
- ClinVar RCV002806448
- ClinVar RCV003324049
- Conflicting interpretations
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.85
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)