A123V (p.Ala123Val) variant of DRD3 (Dopamine receptor D3)
A123V (p.Ala123Val) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55683
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.16
- MetaSVM -0.84
- CADD 28.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available