I10T (p.Ile10Thr) variant of ALPL (P05186)
I10T (p.Ile10Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- rs1408044973
- ClinGen CA338876368
- cosmic curated COSV66380
- ClinVar RCV003317753
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.31
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 8.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)