D2E (p.Asp2Glu) variant of SLCO1B1 (Q9Y6L6)
D2E (p.Asp2Glu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- ExAC rs761348443
- gnomAD rs761348443
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- REVEL 0.01
- CADD 0.97
- PolyPhen-2 0.11
- SIFT 0.23
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available