R272H (p.Arg272His) variant of ALPL (P05186)
R272H (p.Arg272His) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R272H (p.Arg272His) variant details
- p.Arg272His
- rs781272386
- ClinGen CA666626
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66375
- Pathogenic/Likely pathogenic
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 0.76
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for… (PMID 15694177)
- Cited in: Hypophosphatasia. (PMID 20301329)