K52R (p.Lys52Arg) variant of ALPL (P05186)
K52R (p.Lys52Arg) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- gnomAD 1-21560719-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.57
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available