G2V (p.Gly2Val) variant of GNAS (P63092)
G2V (p.Gly2Val) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs2516795072
- ClinGen CA409448625
- ClinVar RCV002842048
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.54
- CADD 18.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available