R20W (p.Arg20Trp) variant of GNAS (P63092)
R20W (p.Arg20Trp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- gnomAD 20-58840185-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 31.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available