N8K (p.Asn8Lys) variant of SLC6A19 (Q695T7)
N8K (p.Asn8Lys) 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 0.29 / 1. The record also includes population frequency data and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- rs557180261
- ClinGen CA3182532
- ClinVar RCV002599905
- ClinVar RCV005034750
- Uncertain significance
- not provided; Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 21.90
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Neutral 1 amino acid transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available