M1? variant of SQSTM1 (Sequestosome-1)
M1? in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M1? variant details
- rs1302810798
- ClinGen CA362441988
- NCI-TCGA Cosmic COSV6243
- ClinVar RCV001319264
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- MetaLR 0.42
- MetaSVM -0.30
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.99
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.593
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)