S24N (p.Ser24Asn) variant of SQSTM1 (Sequestosome-1)
S24N (p.Ser24Asn) 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.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- gnomAD 5-179821007-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.06
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.346
- Literature evidence available