E21K (p.Glu21Lys) variant of GNAS (P63092)
E21K (p.Glu21Lys) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- TOPMed rs2089380994
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available