R32L (p.Arg32Leu) variant of SLC47A1 (Q96FL8)
R32L (p.Arg32Leu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 17-19534034-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.03
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available