R13H (p.Arg13His) variant of GNAS (P63092)
R13H (p.Arg13His) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- ExAC rs767014239
- gnomAD rs767014239
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.35
- CADD 18.30
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available