Q43R (p.Gln43Arg) variant of RAMP1 (O60894)
Q43R (p.Gln43Arg) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- TOPMed rs1215314379
- gnomAD rs1215314379
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.042
- REVEL 0.02
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available