A16S (p.Ala16Ser) variant of SLC47A1 (Q96FL8)
A16S (p.Ala16Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 17-19533985-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.01
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available