R61S (p.Arg61Ser) variant of DRD2 (D(2) dopamine receptor)
R61S (p.Arg61Ser) in DRD2 (D(2) dopamine receptor) 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 0.43 / 1. The record also includes population frequency data and structural context.
R61S (p.Arg61Ser) variant details
- p.Arg61Ser
- TOPMed rs1296819671
- gnomAD rs1296819671
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- MetaLR 0.28
- MetaSVM -0.49
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available