C15S (p.Cys15Ser) variant of DRD3 (Dopamine receptor D3)
C15S (p.Cys15Ser) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
C15S (p.Cys15Ser) variant details
- p.Cys15Ser
- rs1299140732
- ClinGen CA354325324
- ClinVar RCV004285674
- TOPMed rs1299140732
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -0.97
- CADD 22.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.7e-05)
- Structural context available