R10A (p.Arg10Ala) variant of RAMP1 (O60894)
R10A (p.Arg10Ala) in RAMP1 (O60894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10A (p.Arg10Ala) variant details
- p.Arg10Ala
- gnomAD 2-237859698-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 22.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available