p.Ala56 Arg61del variant of GNAS (P63092)
p.Ala56 Arg61del in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala56 Arg61del variant details
- gnomAD 20-58840265-GCAGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available