L18R (p.Leu18Arg) variant of SLC47A1 (Q96FL8)
L18R (p.Leu18Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 17-19533992-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.02
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available