G12S (p.Gly12Ser) variant of SQSTM1 (Sequestosome-1)
G12S (p.Gly12Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 5-179820970-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.24
- CADD 29.80
- PolyPhen-2 0.61
- SIFT 0.03
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849
- Literature evidence available