D47E (p.Asp47Glu) variant of RAMP1 (O60894)
D47E (p.Asp47Glu) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- gnomAD 2-237877312-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- CADD 8.27
- PolyPhen-2 0.24
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available