R21C (p.Arg21Cys) variant of SLC47A1 (Q96FL8)
R21C (p.Arg21Cys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- gnomAD 17-19534000-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available