N49S (p.Asn49Ser) variant of ALPL (P05186)
N49S (p.Asn49Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs868522953
- ClinGen CA19088109
- ClinVar RCV003870471
- ClinVar RCV004701857
- Conflicting interpretations
- Hypophosphatasia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.36
- AlphaMissense 0.64
- MetaLR 0.67
- MetaSVM 0.13
- CADD 20.60
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available