T14N (p.Thr14Asn) variant of DRD3 (Dopamine receptor D3)
T14N (p.Thr14Asn) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- ESP rs144644130
- ExAC rs144644130
- TOPMed rs144644130
- gnomAD rs144644130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.24
- MetaSVM -0.79
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available