A114T (p.Ala114Thr) variant of ALPL (P05186)
A114T (p.Ala114Thr) 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; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs1320839573
- ClinGen CA338877136
- cosmic curated COSV66380
- ClinVar RCV000522077
- Pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)