A39D (p.Ala39Asp) variant of GNAS (P63092)
A39D (p.Ala39Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- Ensembl rs2145916621
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.29
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.09
- Population evidence available
- Structural context available