P29S (p.Pro29Ser) variant of SQSTM1 (Sequestosome-1)
P29S (p.Pro29Ser) 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 2, early-onset; Frontotemporal dementia and/or amyotrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- rs752506754
- ClinGen CA3600370
- cosmic curated COSV62434
- ClinVar RCV001237319
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.03
- CADD 12.90
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Paget disease of bone 2, early-onset; Frontotemporal dementia an)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00033)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.904
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)