F25del (p.Phe25del) variant of SQSTM1 (Sequestosome-1)
F25del (p.Phe25del) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F25del (p.Phe25del) variant details
- gnomAD 5-179821007-GCTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.427
- Literature evidence available