L8V (p.Leu8Val) variant of SLC2A10 (O95528)
L8V (p.Leu8Val) in SLC2A10 (O95528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 20-46725058-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.24
- CADD 9.40
- PolyPhen-2 0.38
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available