R145C (p.Arg145Cys) variant of DRD2 (D(2) dopamine receptor)
R145C (p.Arg145Cys) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R145C (p.Arg145Cys) variant details
- p.Arg145Cys
- rs779267865
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60757
- ExAC rs779267865
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.75
- MetaLR 0.67
- MetaSVM 0.48
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available