R37W (p.Arg37Trp) variant of RAMP1 (O60894)
R37W (p.Arg37Trp) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- cosmic curated COSV54539
- ExAC rs781748441
- TOPMed rs781748441
- gnomAD rs781748441
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available