C26Y (p.Cys26Tyr) variant of SQSTM1 (Sequestosome-1)
C26Y (p.Cys26Tyr) 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.
C26Y (p.Cys26Tyr) variant details
- p.Cys26Tyr
- gnomAD 5-179821013-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.03
- Literature evidence available