R246S (p.Arg246Ser) variant of ALPL (P05186)
R246S (p.Arg246Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R246S (p.Arg246Ser) variant details
- p.Arg246Ser
- rs1223142821
- ClinGen CA338879311
- ClinVar RCV001264483
- ClinVar RCV003320818
- Uncertain significance
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.81
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC… (PMID 10679946)
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)