A39T (p.Ala39Thr) variant of SLC6A19 (Q695T7)
A39T (p.Ala39Thr) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- ESP rs368400668
- ExAC rs368400668
- TOPMed rs368400668
- gnomAD rs368400668
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.31
- ESM-1b 0.75
- AlphaMissense 0.07
- CADD 16.40
- PolyPhen-2 0.05
- SIFT 0.41
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available