G220R (p.Gly220Arg) variant of ALPL (P05186)
G220R (p.Gly220Arg) 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; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G220R (p.Gly220Arg) variant details
- p.Gly220Arg
- rs747488546
- ClinGen CA666573
- ClinVar RCV000670035
- ClinVar RCV001236036
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)