S306L (p.Ser306Leu) variant of GNAS (P63092)
S306L (p.Ser306Leu) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
S306L (p.Ser306Leu) variant details
- p.Ser306Leu
- rs2146292463
- ClinGen CA409453196
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55688
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)