L35R (p.Leu35Arg) variant of SLC47A1 (Q96FL8)
L35R (p.Leu35Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- gnomAD 17-19534043-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available