T36P (p.Thr36Pro) variant of ALPL (P05186)
T36P (p.Thr36Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypophosphatasia; Hypophosphataemia or rickets. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T36P (p.Thr36Pro) variant details
- p.Thr36Pro
- rs747167000
- ClinGen CA338877523
- ClinVar RCV001813915
- ClinVar RCV003728016
- Conflicting interpretations
- not provided; Hypophosphatasia; Hypophosphataemia or rickets
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.80
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypophosphatasia; Hypophosphataemia or rickets)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)