A8S (p.Ala8Ser) variant of SLC47A1 (Q96FL8)
A8S (p.Ala8Ser) 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.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 17-19533961-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.04
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available