L19P (p.Leu19Pro) variant of GNAT1 (P11488)
L19P (p.Leu19Pro) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 3-50191781-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.92
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available