C102F (p.Cys102Phe) variant of DRD3 (Dopamine receptor D3)
C102F (p.Cys102Phe) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
C102F (p.Cys102Phe) variant details
- p.Cys102Phe
- 1000Genomes rs201756825
- ExAC rs201756825
- TOPMed rs201756825
- gnomAD rs201756825
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available