F23S (p.Phe23Ser) variant of SQSTM1 (Sequestosome-1)
F23S (p.Phe23Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F23S (p.Phe23Ser) variant details
- p.Phe23Ser
- gnomAD 5-179821004-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.06
- Literature evidence available