P28Q (p.Pro28Gln) variant of DRD3 (Dopamine receptor D3)
P28Q (p.Pro28Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- rs943787790
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55682
- Ensembl rs943787790
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available