M1I (p.Met1Ile) variant of GNAS (P63092)
M1I (p.Met1Ile) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2145914268
- ClinGen CA409448617
- ClinVar RCV001806426
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)