A19V (p.Ala19Val) variant of DRD4 (D(4) dopamine receptor)
A19V (p.Ala19Val) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 11-637360-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -1.04
- CADD 1.93
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the South Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available