M62V (p.Met62Val) variant of ALPL (P05186)
M62V (p.Met62Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M62V (p.Met62Val) variant details
- p.Met62Val
- Ensembl rs1644478213
- UniProt VAR 025905
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.97
- AlphaMissense 0.76
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)