C26F (p.Cys26Phe) variant of SQSTM1 (Sequestosome-1)
C26F (p.Cys26Phe) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C26F (p.Cys26Phe) variant details
- p.Cys26Phe
- gnomAD 5-179821013-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.09
- CADD 23.30
- PolyPhen-2 0.39
- SIFT 0.06
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.03
- Literature evidence available