E57D (p.Glu57Asp) variant of DRD3 (Dopamine receptor D3)
E57D (p.Glu57Asp) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- rs1179688666
- NCI-TCGA Cosmic COSV5567
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99879
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.42
- MetaSVM -0.27
- CADD 22.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available