G52S (p.Gly52Ser) variant of GNAS (P63092)
G52S (p.Gly52Ser) 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 0.80 / 1. The record also includes published literature and structural context.
G52S (p.Gly52Ser) variant details
- p.Gly52Ser
- rs2146005656
- ClinGen CA409449584
- ClinVar RCV002226845
- Ensembl rs2146005656
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)