E62K (p.Glu62Lys) variant of DRD2 (D(2) dopamine receptor)
E62K (p.Glu62Lys) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- cosmic curated COSV60755
- TOPMed rs868401982
- gnomAD rs868401982
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.64
- MetaLR 0.67
- MetaSVM 0.57
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available