L26S (p.Leu26Ser) variant of SLC47A1 (Q96FL8)
L26S (p.Leu26Ser) 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.
L26S (p.Leu26Ser) variant details
- p.Leu26Ser
- gnomAD 17-19534016-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0855
- REVEL 0.03
- CADD 13.30
- PolyPhen-2 0.08
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available