L4L (p.Leu4Leu) variant of GNAS (P63092)
L4L (p.Leu4Leu) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs778743536
- gnomAD 20-58840867-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available