S7F (p.Ser7Phe) variant of GNAS (P63092)
S7F (p.Ser7Phe) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs767657815
- gnomAD 20-58840120-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 26.50
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available