P50L (p.Pro50Leu) variant of SLC6A3 (Q01959)
P50L (p.Pro50Leu) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs146798197
- ClinGen CA3186474
- ClinVar RCV002009622
- ClinVar RCV002486671
- Uncertain significance
- Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.45
- CADD 18.20
- PolyPhen-2 0.25
- SIFT 0.08
- ClinVar: Uncertain significance (Tobacco addiction, susceptibility to; Classic dopamine transport)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)