R100P (p.Arg100Pro) variant of DRD3 (Dopamine receptor D3)
R100P (p.Arg100Pro) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R100P (p.Arg100Pro) variant details
- p.Arg100Pro
- ExAC rs766862523
- TOPMed rs766862523
- gnomAD rs766862523
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- ESM-1b 0.81
- AlphaMissense 0.23
- MetaLR 0.38
- MetaSVM -0.22
- CADD 29.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available