P33T (p.Pro33Thr) variant of SLC6A19 (Q695T7)
P33T (p.Pro33Thr) 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; Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- rs202242697
- ClinGen CA3182562
- NCI-TCGA Cosmic COSV1004
- ClinVar RCV002988725
- Uncertain significance
- not provided; Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Neutral 1 amino acid transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available