P316A (p.Pro316Ala) variant of SLC18A2 (Q05940)
P316A (p.Pro316Ala) in SLC18A2 (Q05940) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Abnormal dense granules; Abnormal dense granule content; Brain dopamine-serotoni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P316A (p.Pro316Ala) variant details
- p.Pro316Ala
- rs1589981178
- ClinGen CA378512806
- ClinVar RCV001003525
- ClinVar RCV004576976
- Pathogenic/Likely pathogenic
- Abnormal dense granules; Abnormal dense granule content; Brain dopamine-serotoni
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Abnormal dense granules; Abnormal dense granule content; Brain d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin… (PMID 31240161)