R272L (p.Arg272Leu) variant of ALPL (P05186)
R272L (p.Arg272Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adult hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R272L (p.Arg272Leu) variant details
- p.Arg272Leu
- rs781272386
- ClinGen CA666625
- ClinVar RCV001972664
- ClinVar RCV003471180
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.76
- CADD 24.10
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Infantile hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Hypophosphatasia. (PMID 20301329)