A116S (p.Ala116Ser) variant of ALPL (P05186)
A116S (p.Ala116Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A116S (p.Ala116Ser) variant details
- p.Ala116Ser
- rs121918013
- ClinGen CA338877148
- ClinVar RCV001966113
- ClinVar RCV005645342
- Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)