M48V (p.Met48Val) variant of RAMP1 (O60894)
M48V (p.Met48Val) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- TOPMed rs1044004510
- gnomAD rs1044004510
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available