L18F (p.Leu18Phe) variant of SLC47A1 (Q96FL8)
L18F (p.Leu18Phe) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- gnomAD 17-19533991-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0677
- REVEL 0.03
- CADD 7.91
- PolyPhen-2 0.45
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available