A111V (p.Ala111Val) variant of ALPL (P05186)
A111V (p.Ala111Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia. The record also includes structural context.
A111V (p.Ala111Val) variant details
- p.Ala111Val
- cosmic curated COSV10749
- Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available