M62L (p.Met62Leu) variant of ALPL (P05186)
M62L (p.Met62Leu) 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; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M62L (p.Met62Leu) variant details
- p.Met62Leu
- rs1644478213
- ClinGen CA338877833
- ClinVar RCV003412871
- ClinVar RCV005645478
- Conflicting interpretations
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.76
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)