R258A (p.Arg258Ala) variant of GNAS (P63092)
R258A (p.Arg258Ala) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudopseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R258A (p.Arg258Ala) variant details
- p.Arg258Ala
- rs137854536
- ClinGen CA214677
- ClinVar RCV000017307
- Ensembl rs137854536
- Pathogenic
- Pseudopseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- ClinVar: Pathogenic (Pseudopseudohypoparathyroidism)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired… (PMID 10200251)
- Cited in: A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP… (PMID 9727013)