I103T (p.Ile103Thr) variant of GNAS (P63092)
I103T (p.Ile103Thr) 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; Pseudopseudohypoparathyroidism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
I103T (p.Ile103Thr) variant details
- p.Ile103Thr
- rs2146178784
- ClinGen CA409450330
- ClinVar RCV003050559
- ClinVar RCV004786809
- Pathogenic/Likely pathogenic
- Pseudohypoparathyroidism type I A; Pseudopseudohypoparathyroidism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.93
- MetaLR 0.87
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Pseudohypoparathyroidism type I A; Pseudopseudohypoparathyroidis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)