D11E (p.Asp11Glu) variant of GNAS (P63092)
D11E (p.Asp11Glu) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- rs767440362
- gnomAD 20-58840111-A-AAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 28.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available