I43M (p.Ile43Met) variant of DRD3 (Dopamine receptor D3)
I43M (p.Ile43Met) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I43M (p.Ile43Met) variant details
- p.Ile43Met
- ESP rs143953030
- ExAC rs143953030
- TOPMed rs143953030
- gnomAD rs143953030
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.10
- MetaSVM -1.02
- CADD 19.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available