G162V (p.Gly162Val) variant of ALPL (P05186)
G162V (p.Gly162Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G162V (p.Gly162Val) variant details
- p.Gly162Val
- rs121918012
- ClinGen CA256933
- ClinVar RCV000014667
- ClinVar RCV000670940
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)