Q76R (p.Gln76Arg) variant of ALPL (P05186)
Q76R (p.Gln76Arg) 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; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q76R (p.Gln76Arg) variant details
- p.Gln76Arg
- rs1057521085
- ClinGen CA16603529
- ClinVar RCV000418683
- ClinVar RCV002278676
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.96
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. (PMID 11395499)
- Cited in: Hypophosphatasia. (PMID 20301329)