E10V (p.Glu10Val) variant of GNAS (P63092)
E10V (p.Glu10Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs1208964733
- gnomAD 20-58840848-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 19.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available