P81S (p.Pro81Ser) variant of ALPL (P05186)
P81S (p.Pro81Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- rs915866721
- ClinGen CA19088495
- cosmic curated COSV66379
- ClinVar RCV001996353
- Uncertain significance
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.28
- CADD 7.32
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)