A3S (p.Ala3Ser) variant of SLC47A1 (Q96FL8)
A3S (p.Ala3Ser) 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.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 17-19533946-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.07
- CADD 5.09
- PolyPhen-2 0.01
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available