P387L (p.Pro387Leu) variant of SLC18A2 (Q05940)
P387L (p.Pro387Leu) in SLC18A2 (Q05940) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Brain dopamine-serotonin vesicular transport disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
P387L (p.Pro387Leu) variant details
- p.Pro387Leu
- rs1392638187
- ClinGen CA378513318
- cosmic curated COSV53688
- ClinVar RCV004576961
- Pathogenic/Likely pathogenic
- Brain dopamine-serotonin vesicular transport disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Brain dopamine-serotonin vesicular transport disease)
- EBI: Pathogenic (in PKDYS2)
- UniProt: Pathogenic (in PKDYS2)
- Most common in the East Asian population (allele frequency 2.6e-05)
- Cited in: Brain dopamine-serotonin vesicular transport disease and its treatment. (PMID 23363473)