V14M (p.Val14Met) variant of SLC6A3 (Q01959)
V14M (p.Val14Met) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs190367530
- ClinGen CA3186500
- ClinVar RCV001945199
- 1000Genomes rs190367530
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.07
- MetaLR 0.25
- MetaSVM -0.86
- CADD 6.78
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available