S27C (p.Ser27Cys) variant of DRD4 (D(4) dopamine receptor)
S27C (p.Ser27Cys) 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 0.20 / 1. The record also includes population frequency data and structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- rs1022471416
- ClinGen CA216942669
- ClinVar RCV004269211
- TOPMed rs1022471416
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- AlphaMissense 0.18
- MetaLR 0.16
- MetaSVM -0.89
- CADD 15.20
- PolyPhen-2 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available