D58V (p.Asp58Val) variant of RAMP1 (O60894)
D58V (p.Asp58Val) in RAMP1 (O60894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D58V (p.Asp58Val) variant details
- p.Asp58Val
- gnomAD 2-237877338-G-GGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available