R100H (p.Arg100His) variant of DRD3 (Dopamine receptor D3)
R100H (p.Arg100His) in DRD3 (Dopamine receptor D3) 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 0.67 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- rs766862523
- ClinGen CA354323508
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99879
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.50
- MetaSVM 0.06
- CADD 25.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available