R11C (p.Arg11Cys) variant of SLC47A1 (Q96FL8)
R11C (p.Arg11Cys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- TOPMed rs1042708808
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.08
- CADD 21.30
- PolyPhen-2 0.44
- SIFT 0.05
- Population evidence available
- Structural context available