R20C (p.Arg20Cys) variant of GNAS (P63092)
R20C (p.Arg20Cys) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs967292772
- gnomAD 20-58840182-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 29.50
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available