L30M (p.Leu30Met) variant of GNAS (P63092)
L30M (p.Leu30Met) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- rs747725720
- gnomAD 20-58840164-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 25.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available