R199P (p.Arg199Pro) variant of GNAS (P63092)
R199P (p.Arg199Pro) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R199P (p.Arg199Pro) variant details
- p.Arg199Pro
- rs1267396058
- ClinGen CA409452103
- ClinVar RCV002250022
- gnomAD rs1267396058
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)