E35D (p.Glu35Asp) variant of ALPL (P05186)
E35D (p.Glu35Asp) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- gnomAD 1-21560669-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.29
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available