T46A (p.Thr46Ala) variant of SLC6A3 (Q01959)
T46A (p.Thr46Ala) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- Ensembl rs1733719149
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- MetaLR 0.17
- MetaSVM -0.98
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available