E38Q (p.Glu38Gln) variant of RAMP1 (O60894)
E38Q (p.Glu38Gln) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- ExAC rs775366491
- TOPMed rs775366491
- gnomAD rs775366491
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- CADD 13.80
- PolyPhen-2 0.65
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available