T15S (p.Thr15Ser) variant of ALPL (P05186)
T15S (p.Thr15Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T15S (p.Thr15Ser) variant details
- p.Thr15Ser
- rs150849772
- ClinGen CA666362
- ClinVar RCV000916215
- ClinVar RCV001832071
- Likely benign
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.34
- CADD 7.22
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Hypophosphatasia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)