P122A (p.Pro122Ala) variant of GNAS (P63092)
P122A (p.Pro122Ala) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudopseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
P122A (p.Pro122Ala) variant details
- p.Pro122Ala
- rs2146183586
- ClinGen CA409450464
- ClinVar RCV001730120
- Ensembl rs2146183586
- Likely pathogenic
- Pseudopseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.19
- MetaLR 0.38
- MetaSVM -0.27
- PolyPhen-2 0.94
- SIFT 0.02
- EVE 0.64
- ClinVar: Likely pathogenic (Pseudopseudohypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)