L13H (p.Leu13His) variant of RAMP1 (O60894)
L13H (p.Leu13His) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L13H (p.Leu13His) variant details
- p.Leu13His
- gnomAD 2-237859713-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- CADD 26.00
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available