L43L (p.Leu43Leu) variant of GNAS (P63092)
L43L (p.Leu43Leu) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs758474465
- gnomAD 20-58840229-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available