T48I (p.Thr48Ile) variant of ALPL (P05186)
T48I (p.Thr48Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- rs1430855435
- ClinGen CA338877617
- ClinVar RCV002653183
- TOPMed rs1430855435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.08
- MetaLR 0.77
- MetaSVM 0.59
- SIFT 0.15
- MutPred 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available