L368Q (p.Leu368Gln) variant of SLC6A3 (Q01959)
L368Q (p.Leu368Gln) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Classic dopamine transporter deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L368Q (p.Leu368Gln) variant details
- p.Leu368Gln
- rs267607068
- ClinGen CA126861
- ClinVar RCV000018249
- UniProt VAR 063771
- Pathogenic
- Classic dopamine transporter deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (Classic dopamine transporter deficiency syndrome)
- EBI: Pathogenic (in PKDYS1)
- UniProt: Pathogenic (in PKDYS1)
- Structural context available
- Cited in: Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile… (PMID 19478460)
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)