T14I (p.Thr14Ile) variant of DRD3 (Dopamine receptor D3)
T14I (p.Thr14Ile) 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 0.44 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs144644130
- ClinGen CA2550713
- ClinVar RCV004152407
- ESP rs144644130
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.26
- MetaSVM -0.64
- CADD 24.70
- 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