M219V (p.Met219Val) variant of ALPL (P05186)
M219V (p.Met219Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M219V (p.Met219Val) variant details
- p.Met219Val
- rs772432010
- ClinGen CA666570
- ClinVar RCV001351724
- ClinVar RCV001825976
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.74
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)