E16D (p.Glu16Asp) variant of GNAS (P63092)
E16D (p.Glu16Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- cosmic curated COSV55672
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 14.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available