N19K (p.Asn19Lys) variant of DRD3 (Dopamine receptor D3)
N19K (p.Asn19Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
N19K (p.Asn19Lys) variant details
- p.Asn19Lys
- gnomAD rs1277773982
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.17
- MetaSVM -0.94
- CADD 22.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available