T62I (p.Thr62Ile) variant of SLC6A3 (Q01959)
T62I (p.Thr62Ile) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- Ensembl rs912239761
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.72
- MetaLR 0.64
- MetaSVM 0.47
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available