N3K (p.Asn3Lys) variant of DRD4 (D(4) dopamine receptor)
N3K (p.Asn3Lys) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- gnomAD 11-637313-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.95
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available