E99K (p.Glu99Lys) variant of DRD2 (D(2) dopamine receptor)
E99K (p.Glu99Lys) 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 specified; Dystonic disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E99K (p.Glu99Lys) variant details
- p.Glu99Lys
- rs199765712
- ClinGen CA6281435
- ClinVar RCV001302671
- ClinVar RCV004619609
- Uncertain significance
- not specified; Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.35
- MetaLR 0.31
- MetaSVM -0.65
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)