E50Q (p.Glu50Gln) variant of ABCA1 (O95477)
E50Q (p.Glu50Gln) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- gnomAD rs1445439340
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available