R336W (p.Arg336Trp) variant of GNAS (P63092)
R336W (p.Arg336Trp) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type 1C; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R336W (p.Arg336Trp) variant details
- p.Arg336Trp
- rs2146299968
- ClinGen CA409453594
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55671
- Pathogenic/Likely pathogenic
- Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type 1C; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)