A377V (p.Ala377Val) variant of ALPL (P05186)
A377V (p.Ala377Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A377V (p.Ala377Val) variant details
- p.Ala377Val
- rs756418235
- ClinGen CA666737
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic/Likely pathogenic
- ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ALPL-related disorder; Adult hypophosphatasia; Childhood hypopho)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)