L18L (p.Leu18Leu) variant of SLC47A1 (Q96FL8)
L18L (p.Leu18Leu) in SLC47A1 (Q96FL8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1057372810
- gnomAD 17-19533993-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.66
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available