A8T (p.Ala8Thr) variant of SLC47A1 (Q96FL8)
A8T (p.Ala8Thr) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- ExAC rs763664282
- TOPMed rs763664282
- gnomAD rs763664282
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available