A3T (p.Ala3Thr) variant of SLC47A1 (Q96FL8)
A3T (p.Ala3Thr) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- ExAC rs754396350
- TOPMed rs754396350
- gnomAD rs754396350
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- REVEL 0.05
- CADD 8.03
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available