P395L (p.Pro395Leu) variant of SLC6A3 (Q01959)
P395L (p.Pro395Leu) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P395L (p.Pro395Leu) variant details
- p.Pro395Leu
- rs267607069
- ClinGen CA126862
- ClinVar RCV000018250
- UniProt VAR 063772
- Pathogenic
- Classic dopamine transporter deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.89
- MetaLR 0.82
- MetaSVM 0.93
- CADD 26.10
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Pathogenic (Classic dopamine transporter deficiency syndrome)
- EBI: Pathogenic (in PKDYS1)
- UniProt: Pathogenic (in PKDYS1)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)