V107G (p.Val107Gly) variant of GNAS (P63092)
V107G (p.Val107Gly) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudopseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
V107G (p.Val107Gly) variant details
- p.Val107Gly
- rs2146182293
- ClinGen CA409450366
- ClinVar RCV003455836
- Likely pathogenic
- Pseudopseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Pseudopseudohypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)