A399V (p.Ala399Val) variant of ALPL (P05186)
A399V (p.Ala399Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A399V (p.Ala399Val) variant details
- p.Ala399Val
- rs1394896229
- ClinGen CA338881641
- ClinVar RCV003470190
- ClinVar RCV005645489
- Likely pathogenic
- Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.14
- ClinVar: Likely pathogenic (Adult hypophosphatasia; Hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)