A24C (p.Ala24Cys) variant of DRD4 (D(4) dopamine receptor)
A24C (p.Ala24Cys) in DRD4 (D(4) dopamine receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A24C (p.Ala24Cys) variant details
- p.Ala24Cys
- rs1564911675
- gnomAD 11-637373-TGCGGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.40
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available