G27R (p.Gly27Arg) variant of DRD2 (D(2) dopamine receptor)
G27R (p.Gly27Arg) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs201424743
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60758
- ExAC rs201424743
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available