D11N (p.Asp11Asn) variant of GNAS (P63092)
D11N (p.Asp11Asn) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- rs746736450
- gnomAD 20-58840161-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 27.90
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available