M1K (p.Met1Lys) variant of SQSTM1 (Sequestosome-1)
M1K (p.Met1Lys) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes experimental measurements, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs886039780
- ClinGen CA10602465
- ClinVar RCV000256203
- Pathogenic
- Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- MetaLR 0.37
- MetaSVM -0.44
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Neurodegeneration with ataxia, dystonia, and gaze palsy, childho)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.593
- Cited in: Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze… (PMID 27545679)