A40D (p.Ala40Asp) variant of ALPL (P05186)
A40D (p.Ala40Asp) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- gnomAD 1-21560683-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.84
- CADD 23.80
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available