R272C (p.Arg272Cys) variant of ALPL (P05186)
R272C (p.Arg272Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ALPL-related disorders; Childhood hypophosphatasia; Infantil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R272C (p.Arg272Cys) variant details
- p.Arg272Cys
- rs121918020
- ClinGen CA256936
- ClinVar RCV000014679
- ClinVar RCV000169779
- Pathogenic
- Autosomal recessive ALPL-related disorders; Childhood hypophosphatasia; Infantil
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.92
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Pathogenic (Autosomal recessive ALPL-related disorders; Childhood hypophosph)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal… (PMID 18559907)
- Cited in: Hypophosphatasia. (PMID 20301329)