P18L (p.Pro18Leu) variant of DRD4 (D(4) dopamine receptor)
P18L (p.Pro18Leu) in DRD4 (D(4) dopamine receptor) 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.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- TOPMed rs1478059195
- gnomAD rs1478059195
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.05
- CADD 5.40
- PolyPhen-2 0.03
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available