A53V (p.Ala53Val) variant of DRD3 (Dopamine receptor D3)
A53V (p.Ala53Val) in DRD3 (Dopamine receptor D3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- cosmic curated COSV11413
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.21
- MetaSVM -0.69
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available