T5N (p.Thr5Asn) variant of SQSTM1 (Sequestosome-1)
T5N (p.Thr5Asn) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- rs1050354862
- ClinGen CA362442012
- ClinVar RCV002252446
- TOPMed rs1050354862
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.08
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.382