D25E (p.Asp25Glu) variant of ALPL (P05186)
D25E (p.Asp25Glu) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- gnomAD 1-21560639-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.29
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available