Y34C (p.Tyr34Cys) variant of DRD2 (D(2) dopamine receptor)
Y34C (p.Tyr34Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60756
- Ensembl rs1950920292
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.48
- MetaLR 0.14
- MetaSVM -0.87
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available