R24C (p.Arg24Cys) variant of SLC47A1 (Q96FL8)
R24C (p.Arg24Cys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- gnomAD 17-19534009-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.16
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available