L30L (p.Leu30Leu) variant of GNAS (P63092)
L30L (p.Leu30Leu) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs747725720
- gnomAD 20-58840164-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available