M1T (p.Met1Thr) variant of GNAS (P63092)
M1T (p.Met1Thr) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of See cases; Autosomal dominant GNAS-related disorders; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1555883949
- ClinGen CA409448615
- ClinVar RCV000595919
- ClinVar RCV002222189
- Pathogenic
- See cases; Autosomal dominant GNAS-related disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- MetaLR 0.88
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (See cases; Autosomal dominant GNAS-related disorders; not provid)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available