R20L (p.Arg20Leu) variant of GNAS (P63092)
R20L (p.Arg20Leu) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- rs774700482
- gnomAD 20-58840183-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 29.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available