G221C (p.Gly221Cys) variant of ALPL (P05186)
G221C (p.Gly221Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia; not provided. 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.
G221C (p.Gly221Cys) variant details
- p.Gly221Cys
- rs769020799
- ClinGen CA338879053
- ClinVar RCV001338594
- ClinVar RCV005645261
- Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)