L21V (p.Leu21Val) variant of SLC18A2 (Q05940)
L21V (p.Leu21Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 10-117241754-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available