R38W (p.Arg38Trp) variant of GNAS (P63092)
R38W (p.Arg38Trp) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudopseudohypoparathyroidism; Pituitary adenoma 3, multiple types; ACTH-indepe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- TOPMed rs994421324
- gnomAD rs994421324
- Uncertain significance
- Pseudopseudohypoparathyroidism; Pituitary adenoma 3, multiple types; ACTH-indepe
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.41
- CADD 16.40
- PolyPhen-2 0.83
- SIFT 0.12
- ClinVar: Uncertain significance (Pseudopseudohypoparathyroidism; Pituitary adenoma 3, multiple ty)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 9.8e-05)
- Structural context available