T23I (p.Thr23Ile) variant of SLC6A19 (Q695T7)
T23I (p.Thr23Ile) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD 5-1201718-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.03
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available