C27R (p.Cys27Arg) variant of SQSTM1 (Sequestosome-1)
C27R (p.Cys27Arg) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- gnomAD 5-179821015-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.406
- Literature evidence available