R258L (p.Arg258Leu) variant of GNAS (P63092)
R258L (p.Arg258Leu) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R258L (p.Arg258Leu) variant details
- p.Arg258Leu
- rs1555891584
- ClinGen CA409452593
- ClinVar RCV001732168
- Ensembl rs1555891584
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 0.76
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)