R61C (p.Arg61Cys) variant of DRD2 (D(2) dopamine receptor)
R61C (p.Arg61Cys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs1296819671
- ClinGen CA382654880
- cosmic curated COSV60757
- ClinVar RCV003885293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- MetaLR 0.26
- MetaSVM -0.50
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available