A16T (p.Ala16Thr) variant of SLC47A1 (Q96FL8)
A16T (p.Ala16Thr) in SLC47A1 (Q96FL8) 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.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- TOPMed rs1915917809
- gnomAD rs1915917809
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.01
- CADD 6.53
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available