V382L (p.Val382Leu) variant of ALPL (P05186)
V382L (p.Val382Leu) 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; Hypophosphataemia or rickets; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
V382L (p.Val382Leu) variant details
- p.Val382Leu
- rs771540767
- ClinGen CA338881384
- ClinVar RCV003533801
- ClinVar RCV004690448
- Conflicting interpretations
- not provided; Hypophosphataemia or rickets; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.74
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)