C25F (p.Cys25Phe) variant of SLC47A1 (Q96FL8)
C25F (p.Cys25Phe) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- gnomAD 17-19534013-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.02
- CADD 7.56
- PolyPhen-2 0.02
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available