S23T (p.Ser23Thr) variant of DRD4 (D(4) dopamine receptor)
S23T (p.Ser23Thr) in DRD4 (D(4) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- TOPMed rs1276711137
- gnomAD rs1276711137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.11
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -1.04
- CADD 1.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available