T5I (p.Thr5Ile) variant of SQSTM1 (Sequestosome-1)
T5I (p.Thr5Ile) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- TOPMed rs1050354862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.31
- CADD 25.20
- PolyPhen-2 0.84
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.382