A57V (p.Ala57Val) variant of SLC18A2 (Q05940)
A57V (p.Ala57Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- gnomAD 10-117244019-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available