I40N (p.Ile40Asn) variant of DRD3 (Dopamine receptor D3)
I40N (p.Ile40Asn) in DRD3 (Dopamine receptor D3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I40N (p.Ile40Asn) variant details
- p.Ile40Asn
- TOPMed rs2077847103
- gnomAD rs2077847103
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.16
- MetaSVM -0.79
- CADD 27.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available