E10Q (p.Glu10Gln) variant of GNAS (P63092)
E10Q (p.Glu10Gln) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- cosmic curated COSV55691
- 1000Genomes rs200163406
- ExAC rs200163406
- TOPMed rs200163406
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.24
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available