V55L (p.Val55Leu) variant of SLC6A3 (Q01959)
V55L (p.Val55Leu) 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 0.10 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs751986313
- ClinGen CA359064686
- NCI-TCGA Cosmic COSV5436
- ClinVar RCV002654548
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -1.00
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available