L28P (p.Leu28Pro) variant of SLC18A2 (Q05940)
L28P (p.Leu28Pro) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 10-117241776-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available