V50M (p.Val50Met) variant of SLC6A19 (Q695T7)
V50M (p.Val50Met) 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 0.84 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs745526472
- ClinGen CA3182575
- ClinVar RCV002616512
- ExAC rs745526472
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available