K27R (p.Lys27Arg) variant of ALPL (P05186)
K27R (p.Lys27Arg) 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 and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- ESP rs146412299
- ExAC rs146412299
- TOPMed rs146412299
- gnomAD rs146412299
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available