E16K (p.Glu16Lys) variant of GNAS (P63092)
E16K (p.Glu16Lys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs2516796853
- ClinGen CA409448714
- ClinVar RCV003879558
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.40
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available