N143K (p.Asn143Lys) variant of DRD2 (D(2) dopamine receptor)
N143K (p.Asn143Lys) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N143K (p.Asn143Lys) variant details
- p.Asn143Lys
- gnomAD rs1172184600
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.41
- MetaLR 0.43
- MetaSVM -0.29
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available