L18P (p.Leu18Pro) variant of SLC47A1 (Q96FL8)
L18P (p.Leu18Pro) 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 and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- TOPMed rs1171452426
- gnomAD rs1171452426
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.01
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available