A9V (p.Ala9Val) variant of ALPL (P05186)
A9V (p.Ala9Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs772679576
- ClinGen CA666360
- ClinVar RCV001101710
- ClinVar RCV002480471
- Uncertain significance
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.25
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)