T46K (p.Thr46Lys) variant of SLC6A1 (P30531)
T46K (p.Thr46Lys) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T46K (p.Thr46Lys) variant details
- p.Thr46Lys
- gnomAD 3-11017348-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available