P307L (p.Pro307Leu) variant of ALPL (P05186)
P307L (p.Pro307Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P307L (p.Pro307Leu) variant details
- p.Pro307Leu
- rs768555495
- ClinGen CA666680
- ClinVar RCV000322603
- ClinVar RCV002509351
- Conflicting interpretations
- Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)