S5C (p.Ser5Cys) variant of DRD4 (D(4) dopamine receptor)
S5C (p.Ser5Cys) 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.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 11-637317-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.89
- CADD 21.50
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available