L21R (p.Leu21Arg) variant of SLC18A2 (Q05940)
L21R (p.Leu21Arg) 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.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 10-117241755-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available