G12C (p.Gly12Cys) variant of SQSTM1 (Sequestosome-1)
G12C (p.Gly12Cys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 5-179820970-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849
- Literature evidence available