E49Q (p.Glu49Gln) variant of RAMP1 (O60894)
E49Q (p.Glu49Gln) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- TOPMed rs1213120687
- gnomAD rs1213120687
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- CADD 18.20
- PolyPhen-2 0.42
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available