F23L (p.Phe23Leu) variant of SQSTM1 (Sequestosome-1)
F23L (p.Phe23Leu) 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.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- gnomAD 5-179821003-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.07
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.06
- Literature evidence available