E27K (p.Glu27Lys) variant of GNAS (P63092)
E27K (p.Glu27Lys) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- cosmic curated COSV10454
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 17.40
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available