K28R (p.Lys28Arg) variant of GNAS (P63092)
K28R (p.Lys28Arg) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- TOPMed rs2089382943
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.31
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.59
- Population evidence available
- Structural context available