L35P (p.Leu35Pro) variant of SLC47A1 (Q96FL8)
L35P (p.Leu35Pro) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- gnomAD 17-19534043-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available