K264R (p.Lys264Arg) variant of ALPL (P05186)
K264R (p.Lys264Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K264R (p.Lys264Arg) variant details
- p.Lys264Arg
- rs786204442
- ClinGen CA273908
- ClinVar RCV000169064
- ClinVar RCV001264499
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.18
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)