I45V (p.Ile45Val) variant of DRD2 (D(2) dopamine receptor)
I45V (p.Ile45Val) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- gnomAD rs1193685527
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available