A8E (p.Ala8Glu) variant of SLC47A1 (Q96FL8)
A8E (p.Ala8Glu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- ExAC rs751148502
- TOPMed rs751148502
- gnomAD rs751148502
- Missense
- Variant Prioritization Score for Impact Estimate 0.0475
- REVEL 0.01
- CADD 5.12
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available