E15K (p.Glu15Lys) variant of GNAS (P63092)
E15K (p.Glu15Lys) in GNAS (P63092) is a missense change. Clinical records from ClinVar 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 0.57 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55679
- NCI-TCGA Cosmic COSV5568
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.59
- CADD 19.90
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available