V55M (p.Val55Met) variant of SLC6A3 (Q01959)
V55M (p.Val55Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs751986313
- ClinGen CA3186463
- ClinVar RCV001967530
- ClinVar RCV005412328
- Uncertain significance
- Parkinsonism-dystonia, infantile; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.98
- CADD 1.82
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available