S19I (p.Ser19Ile) variant of DRD2 (D(2) dopamine receptor)
S19I (p.Ser19Ile) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available