A40V (p.Ala40Val) variant of ALPL (P05186)
A40V (p.Ala40Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs770093969
- ClinGen CA666401
- ClinVar RCV001253054
- ClinVar RCV001264416
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.79
- CADD 22.70
- PolyPhen-2 0.41
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC… (PMID 10679946)