S24G (p.Ser24Gly) variant of SQSTM1 (Sequestosome-1)
S24G (p.Ser24Gly) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- gnomAD rs1242898002
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.16
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.346