C57* (p.Cys57Ter) variant of RAMP1 (O60894)
C57* (p.Cys57Ter) in RAMP1 (O60894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C57* (p.Cys57Ter) variant details
- p.Cys57Ter
- gnomAD 2-237877338-GGT-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available