T36A (p.Thr36Ala) variant of ALPL (P05186)
T36A (p.Thr36Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- ExAC rs747167000
- gnomAD rs747167000
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available