V44L (p.Val44Leu) variant of DRD3 (Dopamine receptor D3)
V44L (p.Val44Leu) in DRD3 (Dopamine receptor D3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- ExAC rs777983208
- TOPMed rs777983208
- gnomAD rs777983208
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.15
- CADD 7.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available