R11S (p.Arg11Ser) variant of SLC47A1 (Q96FL8)
R11S (p.Arg11Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- gnomAD 17-19533970-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.05
- CADD 9.42
- PolyPhen-2 0.04
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available