G12C (p.Gly12Cys) variant of RAMP1 (O60894)
G12C (p.Gly12Cys) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 2-237859709-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.03
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available