G22E (p.Gly22Glu) variant of SLC47A1 (Q96FL8)
G22E (p.Gly22Glu) in SLC47A1 (Q96FL8) 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.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- ExAC rs748267094
- TOPMed rs748267094
- gnomAD rs748267094
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.02
- CADD 8.77
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available