E21K (p.Glu21Lys) variant of ALPL (P05186)
E21K (p.Glu21Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs1553410728
- ClinGen CA338876534
- ClinVar RCV000672433
- ClinVar RCV005645148
- Conflicting interpretations
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.59
- PolyPhen-2 0.85
- SIFT 0.60
- MutPred 0.39
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypophosphatasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)