p.Leu28dup variant of SLC18A2 (Q05940)
p.Leu28dup in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu28dup variant details
- rs1483638680
- gnomAD 10-117241774-C-CC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available