S23C (p.Ser23Cys) variant of DRD4 (D(4) dopamine receptor)
S23C (p.Ser23Cys) in DRD4 (D(4) dopamine receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- gnomAD 11-637369-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 9.94
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available