L28P (p.Leu28Pro) variant of SLC47A1 (Q96FL8)
L28P (p.Leu28Pro) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 17-19534022-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available