A38T (p.Ala38Thr) variant of DRD3 (Dopamine receptor D3)
A38T (p.Ala38Thr) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Tremor, hereditary essential, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs138354054
- ClinGen CA2550695
- cosmic curated COSV55680
- ClinVar RCV001144426
- Likely benign
- Tremor, hereditary essential, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.05
- CADD 7.21
- ClinVar: Likely benign (Tremor, hereditary essential, 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.034)
- Structural context available