A114V (p.Ala114Val) variant of ALPL (P05186)
A114V (p.Ala114Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- rs762915678
- ClinGen CA666463
- ClinVar RCV001253667
- ClinVar RCV005057166
- Conflicting interpretations
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)