Y101C (p.Tyr101Cys) variant of ALPL (P05186)
Y101C (p.Tyr101Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y101C (p.Tyr101Cys) variant details
- p.Tyr101Cys
- rs2148158064
- ClinGen CA338877056
- ClinVar RCV002227833
- ClinVar RCV003679078
- Pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Adult hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)