K24E (p.Lys24Glu) variant of ALPL (P05186)
K24E (p.Lys24Glu) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- gnomAD 1-21560634-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- CADD 20.20
- PolyPhen-2 0.24
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available