E53D (p.Glu53Asp) variant of RAMP1 (O60894)
E53D (p.Glu53Asp) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- gnomAD 2-237877330-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- CADD 15.20
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available