L17del (p.Leu17del) variant of RAMP1 (O60894)
L17del (p.Leu17del) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L17del (p.Leu17del) variant details
- gnomAD 2-237859720-GCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 20.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available