T411A (p.Thr411Ala) variant of ALPL (P05186)
T411A (p.Thr411Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
T411A (p.Thr411Ala) variant details
- p.Thr411Ala
- rs2148192403
- ClinGen CA338881743
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.48
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.34
- ClinVar: Pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for… (PMID 15694177)
- Cited in: Hypophosphatasia. (PMID 20301329)