N3D (p.Asn3Asp) variant of DRD4 (D(4) dopamine receptor)
N3D (p.Asn3Asp) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- gnomAD 11-637311-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.94
- CADD 19.70
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available