R11L (p.Arg11Leu) variant of SLC47A1 (Q96FL8)
R11L (p.Arg11Leu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 17-19533971-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- CADD 8.97
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available