W14A (p.Trp14Ala) variant of RAMP1 (O60894)
W14A (p.Trp14Ala) in RAMP1 (O60894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
W14A (p.Trp14Ala) variant details
- p.Trp14Ala
- rs1255267460
- gnomAD 2-237859709-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available