T36I (p.Thr36Ile) variant of ALPL (P05186)
T36I (p.Thr36Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- rs199952414
- ClinGen CA10609815
- ClinVar RCV000309784
- ClinVar RCV005090425
- Conflicting interpretations
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.62
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)