P9R (p.Pro9Arg) variant of RAMP1 (O60894)
P9R (p.Pro9Arg) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- TOPMed rs1261233358
- gnomAD rs1261233358
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.02
- CADD 6.18
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available