E53R (p.Glu53Arg) variant of RAMP1 (O60894)
E53R (p.Glu53Arg) in RAMP1 (O60894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E53R (p.Glu53Arg) variant details
- p.Glu53Arg
- gnomAD 2-237877324-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available