T12I (p.Thr12Ile) variant of ALPL (P05186)
T12I (p.Thr12Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- rs1570252164
- ClinGen CA338876398
- ClinVar RCV001348759
- Ensembl rs1570252164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.25
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available