F25L (p.Phe25Leu) variant of SQSTM1 (Sequestosome-1)
F25L (p.Phe25Leu) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- Ensembl rs1032261596
- NCI-TCGA Cosmic COSV1006
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.427