V8M (p.Val8Met) variant of SLC6A3 (Q01959)
V8M (p.Val8Met) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- TOPMed rs1243839869
- gnomAD rs1243839869
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.76
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available