T66I (p.Thr66Ile) variant of ALPL (P05186)
T66I (p.Thr66Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar 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 0.88 / 1. The record also includes population frequency data and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- gnomAD rs1249754841
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available