A16D (p.Ala16Asp) variant of SLC47A1 (Q96FL8)
A16D (p.Ala16Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 17-19533986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0735
- REVEL 0.03
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available