R58W (p.Arg58Trp) variant of DRD3 (Dopamine receptor D3)
R58W (p.Arg58Trp) 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 0.42 / 1. The record also includes population frequency data and structural context.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- rs376795590
- ClinGen CA2550678
- cosmic curated COSV55682
- ClinVar RCV004174948
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.39
- MetaSVM -0.02
- CADD 23.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available