P9L (p.Pro9Leu) variant of RAMP1 (O60894)
P9L (p.Pro9Leu) in RAMP1 (O60894) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- TOPMed rs1261233358
- gnomAD rs1261233358
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.02
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available