A116D (p.Ala116Asp) variant of DRD3 (Dopamine receptor D3)
A116D (p.Ala116Asp) 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 0.88 / 1. The record also includes population frequency data and structural context.
A116D (p.Ala116Asp) variant details
- p.Ala116Asp
- ExAC rs768904348
- TOPMed rs768904348
- gnomAD rs768904348
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.88
- CADD 28.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available