V100A (p.Val100Ala) variant of SLC37A4 (O43826)
V100A (p.Val100Ala) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V100A (p.Val100Ala) variant details
- p.Val100Ala
- ESP rs370727481
- ExAC rs370727481
- gnomAD rs370727481
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.13
- Population evidence available
- Structural context available