S20P (p.Ser20Pro) variant of DRD3 (Dopamine receptor D3)
S20P (p.Ser20Pro) 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 0.19 / 1. The record also includes population frequency data and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- TOPMed rs1577619530
- gnomAD rs1577619530
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.97
- CADD 8.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available