S27P (p.Ser27Pro) variant of DRD4 (D(4) dopamine receptor)
S27P (p.Ser27Pro) 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 0.14 / 1. The record also includes population frequency data and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- rs1858083847
- ClinGen CA379002427
- ClinVar RCV004127147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -1.07
- CADD 4.98
- 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 2e-06)
- Structural context available