G130R (p.Gly130Arg) variant of SLC2A1 (P11166)
G130R (p.Gly130Arg) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G130R (p.Gly130Arg) variant details
- p.Gly130Arg
- rs80359819
- ClinGen CA318427
- ClinVar RCV000189352
- ClinVar RCV006362127
- Pathogenic
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)