E2D (p.Glu2Asp) variant of CHRNA4 (P43681)
E2D (p.Glu2Asp) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- TOPMed rs1244424506
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)