L4H (p.Leu4His) variant of GNAS (P63092)
L4H (p.Leu4His) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L4H (p.Leu4His) variant details
- p.Leu4His
- gnomAD rs1233534637
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.56
- CADD 19.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available