L35Q (p.Leu35Gln) variant of SLC47A1 (Q96FL8)
L35Q (p.Leu35Gln) 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.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- gnomAD 17-19534043-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- CADD 24.50
- PolyPhen-2 0.60
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available