P33L (p.Pro33Leu) variant of SLC6A19 (Q695T7)
P33L (p.Pro33Leu) 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; Iminoglycinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs766566496
- ClinGen CA3182563
- ClinVar RCV002027224
- ClinVar RCV002486739
- Uncertain significance
- not provided; Neutral 1 amino acid transport defect; Iminoglycinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Neutral 1 amino acid transport defect; Iminoglycin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available