L45F (p.Leu45Phe) variant of GNAS (P63092)
L45F (p.Leu45Phe) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- rs777218004
- gnomAD 20-58840239-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 26.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available