E10K (p.Glu10Lys) variant of GNAS (P63092)
E10K (p.Glu10Lys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GNAS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- 1000Genomes rs200163406
- ExAC rs200163406
- TOPMed rs200163406
- gnomAD rs200163406
- Uncertain significance
- GNAS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (GNAS-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available