L224P (p.Leu224Pro) variant of SLC6A3 (Q01959)
L224P (p.Leu224Pro) 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 0.66 / 1. The record also includes published literature and structural context.
L224P (p.Leu224Pro) variant details
- p.Leu224Pro
- rs431905515
- ClinGen CA149714
- ClinVar RCV000083263
- Ensembl rs431905515
- Pathogenic
- Classic dopamine transporter deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.89
- MetaLR 0.62
- MetaSVM 0.33
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.67
- ClinVar: Pathogenic (Classic dopamine transporter deficiency syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort… (PMID 21112253)
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)