S23W (p.Ser23Trp) variant of SLC47A1 (Q96FL8)
S23W (p.Ser23Trp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S23W (p.Ser23Trp) variant details
- p.Ser23Trp
- gnomAD 17-19534007-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.04
- CADD 13.80
- PolyPhen-2 0.07
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available