R42L (p.Arg42Leu) variant of GNAS (P63092)
R42L (p.Arg42Leu) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- rs754780507
- gnomAD 20-58840234-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 31.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available