Q31K (p.Gln31Lys) variant of GNAS (P63092)
Q31K (p.Gln31Lys) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- Ensembl rs2089384365
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available