I123T (p.Ile123Thr) variant of SLC6A4 (P31645)
I123T (p.Ile123Thr) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I123T (p.Ile123Thr) variant details
- p.Ile123Thr
- 1000Genomes rs542708308
- ExAC rs542708308
- gnomAD rs542708308
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.54
- MetaSVM 0.02
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available