T141N (p.Thr141Asn) variant of ALPL (P05186)
T141N (p.Thr141Asn) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T141N (p.Thr141Asn) variant details
- p.Thr141Asn
- rs916300043
- ClinGen CA338877301
- ClinVar RCV000667160
- ClinVar RCV001855475
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)