R20W (p.Arg20Trp) variant of DRD2 (D(2) dopamine receptor)
R20W (p.Arg20Trp) in DRD2 (D(2) dopamine receptor) 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 0.32 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- ESP rs149874318
- ExAC rs149874318
- TOPMed rs149874318
- gnomAD rs149874318
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.08
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available