R136H (p.Arg136His) variant of ALPL (P05186)
R136H (p.Arg136His) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALPL-related autosomal recessive hypophosphatasia; Semidominant ALPL-related dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs121918011
- ClinGen CA256932
- cosmic curated COSV66379
- ClinVar RCV000014666
- Pathogenic/Likely pathogenic
- ALPL-related autosomal recessive hypophosphatasia; Semidominant ALPL-related dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- AlphaMissense 0.37
- MetaLR 0.89
- MetaSVM 0.81
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (ALPL-related autosomal recessive hypophosphatasia; Semidominant)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)