D378V (p.Asp378Val) variant of ALPL (P05186)
D378V (p.Asp378Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Semidominant ALPL-related disorders; Inborn genetic diseases; Childhood hypophos. 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.
D378V (p.Asp378Val) variant details
- p.Asp378Val
- rs121918008
- ClinGen CA256928
- ClinVar RCV000014661
- ClinVar RCV000014662
- Pathogenic
- Semidominant ALPL-related disorders; Inborn genetic diseases; Childhood hypophos
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Semidominant ALPL-related disorders; Inborn genetic diseases; Ch)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mild autosomal dominant hypophosphatasia: in utero presentation in two families. (PMID 10508980)
- Cited in: Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the… (PMID 10690885)