G52R (p.Gly52Arg) variant of RAMP1 (O60894)
G52R (p.Gly52Arg) 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 0.41 / 1. The record also includes population frequency data and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- ExAC rs760459192
- TOPMed rs760459192
- gnomAD rs760459192
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available