T46I (p.Thr46Ile) variant of SLC6A3 (Q01959)
T46I (p.Thr46Ile) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T46I (p.Thr46Ile) variant details
- p.Thr46Ile
- gnomAD rs1202334100
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.08
- MetaLR 0.33
- MetaSVM -0.42
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available