S250R (p.Ser250Arg) variant of GNAS (P63092)
S250R (p.Ser250Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
S250R (p.Ser250Arg) variant details
- p.Ser250Arg
- rs137854534
- ClinGen CA126089
- ClinVar RCV000017303
- UniProt VAR 017849
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Structural context available
- Cited in: A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. (PMID 9328353)
- Cited in: Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. (PMID 11450852)