A17V (p.Ala17Val) variant of SQSTM1 (Sequestosome-1)
A17V (p.Ala17Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs141502868
- ClinGen CA3600365
- cosmic curated COSV10065
- ClinVar RCV001155397
- Uncertain significance
- Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (Paget disease of bone 3; Frontotemporal dementia and/or amyotrop)
- EBI: Variant of uncertain significance (in dbSNP:rs141502868)
- UniProt: Uncertain significance (in dbSNP:rs141502868)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.898
- Cited in: Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. (PMID 24899140)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)