Y388C (p.Tyr388Cys) variant of ALPL (P05186)
Y388C (p.Tyr388Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y388C (p.Tyr388Cys) variant details
- p.Tyr388Cys
- rs1644722925
- ClinGen CA338881455
- ClinVar RCV001991149
- ClinVar RCV005017000
- Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.70
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)