L43P (p.Leu43Pro) variant of DRD2 (D(2) dopamine receptor)
L43P (p.Leu43Pro) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- ExAC rs762573963
- gnomAD rs762573963
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.58
- MetaLR 0.17
- MetaSVM -0.79
- CADD 25.90
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available