A2V (p.Ala2Val) variant of SQSTM1 (Sequestosome-1)
A2V (p.Ala2Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Pa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs377371202
- 1000Genomes rs377371202
- ESP rs377371202
- ExAC rs377371202
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Pa
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.04
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.952
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)