R27H (p.Arg27His) variant of DRD3 (Dopamine receptor D3)
R27H (p.Arg27His) 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 0.12 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- cosmic curated COSV55678
- ESP rs201554805
- ExAC rs201554805
- TOPMed rs201554805
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.03
- CADD 12.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available