A2V (p.Ala2Val) variant of RAMP1 (O60894)
A2V (p.Ala2Val) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and published literature.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 2-237859680-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.01
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Literature evidence available