D114E (p.Asp114Glu) variant of DRD2 (D(2) dopamine receptor)
D114E (p.Asp114Glu) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D114E (p.Asp114Glu) variant details
- p.Asp114Glu
- cosmic curated COSV60754
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.52
- MetaLR 0.30
- MetaSVM -0.16
- CADD 18.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available