M1L (p.Met1Leu) variant of GNAS (P63092)
M1L (p.Met1Leu) 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 0.91 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs137854530
- ClinGen CA16620942
- ClinVar RCV000483377
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available