S181L (p.Ser181Leu) variant of ALPL (P05186)
S181L (p.Ser181Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Semidominant ALPL-related disorders; Inborn genetic diseases; Adult hypophosphat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S181L (p.Ser181Leu) variant details
- p.Ser181Leu
- rs199590449
- ClinGen CA273974
- ClinVar RCV000169128
- ClinVar RCV000729215
- Pathogenic/Likely pathogenic
- Semidominant ALPL-related disorders; Inborn genetic diseases; Adult hypophosphat
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.79
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.03
- CADD 23.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Semidominant ALPL-related disorders; Inborn genetic diseases; Ad)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00023)
- Structural context available
- Cited in: A molecular approach to dominance in hypophosphatasia. (PMID 11479741)
- Cited in: Hypophosphatasia. (PMID 20301329)