V24M (p.Val24Met) variant of SLC6A3 (Q01959)
V24M (p.Val24Met) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- rs201800694
- ClinGen CA3186489
- ClinVar RCV000647220
- ClinVar RCV000765818
- Uncertain significance
- Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -1.04
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Tobacco addiction, susceptibility to; Classic dopamine transport)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00057)
- Structural context available
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)