G9S (p.Gly9Ser) variant of DRD3 (Dopamine receptor D3)
G9S (p.Gly9Ser) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Tremor, hereditary essential, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs6280
- ClinGen CA126866
- cosmic curated COSV55678
- ClinVar RCV000018257
- Benign/Likely benign
- not provided; not specified; Tremor, hereditary essential, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- REVEL 0.03
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.93
- CADD 0.05
- PolyPhen-2 0.00
- ClinVar: Benign/Likely benign (not provided; not specified; Tremor, hereditary essential, 1)
- EBI: Benign (in dbSNP:rs6280)
- UniProt: Benign (in dbSNP:rs6280)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. (PMID 1362221)