G12V (p.Gly12Val) variant of RAMP1 (O60894)
G12V (p.Gly12Val) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- TOPMed rs1266018143
- gnomAD rs1266018143
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available