L30P (p.Leu30Pro) variant of GNAS (P63092)
L30P (p.Leu30Pro) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs1220130891
- gnomAD 20-58840162-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available