S24R (p.Ser24Arg) variant of SQSTM1 (Sequestosome-1)
S24R (p.Ser24Arg) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- gnomAD 5-179821008-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 0.34
- SIFT 0.20
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.346
- Literature evidence available