V5M (p.Val5Met) variant of SLC6A19 (Q695T7)
V5M (p.Val5Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- rs200608959
- ClinGen CA3182531
- ClinVar RCV002790895
- 1000Genomes rs200608959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 18.20
- PolyPhen-2 0.79
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available