A46V (p.Ala46Val) variant of DRD2 (D(2) dopamine receptor)
A46V (p.Ala46Val) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- Ensembl rs201061220
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.28
- MetaLR 0.04
- MetaSVM -1.03
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available