G46S (p.Gly46Ser) variant of DRD3 (Dopamine receptor D3)
G46S (p.Gly46Ser) 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 0.70 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- rs199854203
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55679
- NCI-TCGA Cosmic COSV5568
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.44
- MetaSVM 0.05
- CADD 26.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available