F327L (p.Phe327Leu) variant of ALPL (P05186)
F327L (p.Phe327Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F327L (p.Phe327Leu) variant details
- p.Phe327Leu
- rs2545335005
- ClinGen CA338880412
- ClinVar RCV003716343
- ClinVar RCV005254859
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS and HPPI)
- UniProt: Pathogenic (in HOPS and HPPI)
- Most common in the East Asian population (allele frequency 0.0014)
- Structural context available
- Cited in: Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. (PMID 8954059)
- Cited in: Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the… (PMID 9452105)