F25C (p.Phe25Cys) variant of SQSTM1 (Sequestosome-1)
F25C (p.Phe25Cys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F25C (p.Phe25Cys) variant details
- p.Phe25Cys
- Ensembl rs1757752863
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.427