G334S (p.Gly334Ser) variant of ALPL (P05186)
G334S (p.Gly334Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G334S (p.Gly334Ser) variant details
- p.Gly334Ser
- rs769955594
- ClinGen CA666718
- ClinVar RCV002622478
- ClinVar RCV003447632
- Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.79
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)