L54Q (p.Leu54Gln) variant of SLC2A10 (O95528)
L54Q (p.Leu54Gln) in SLC2A10 (O95528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L54Q (p.Leu54Gln) variant details
- p.Leu54Gln
- gnomAD 20-46725197-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available