I24T (p.Ile24Thr) variant of SLC6A19 (Q695T7)
I24T (p.Ile24Thr) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- rs772851309
- ClinGen CA3182552
- ClinVar RCV002871977
- ExAC rs772851309
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available