P16L (p.Pro16Leu) variant of SLC6A19 (Q695T7)
P16L (p.Pro16Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neutral 1 amino acid transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs201925289
- ClinGen CA3182546
- ClinVar RCV002615173
- ClinVar RCV005045320
- Conflicting interpretations
- Neutral 1 amino acid transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Neutral 1 amino acid transport defect; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00022)
- Structural context available