I372T (p.Ile372Thr) variant of GNAS (P63092)
I372T (p.Ile372Thr) 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 0.80 / 1. The record also includes published literature and structural context.
I372T (p.Ile372Thr) variant details
- p.Ile372Thr
- rs2146305978
- ClinGen CA409453856
- ClinVar RCV001732175
- Ensembl rs2146305978
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)