E19D (p.Glu19Asp) variant of SQSTM1 (Sequestosome-1)
E19D (p.Glu19Asp) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of. 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.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- TOPMed rs1582002994
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.35
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.11
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.183