M1V (p.Met1Val) variant of GNAS (P63092)
M1V (p.Met1Val) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive osseous heteroplasia; McCune-Albright syndrome; Pseudohypoparathyroi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs137854530
- ClinGen CA126055
- ClinVar RCV000017278
- ClinVar RCV000522303
- Uncertain significance
- Progressive osseous heteroplasia; McCune-Albright syndrome; Pseudohypoparathyroi
- 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: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. (PMID 2109828)
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)