A35S (p.Ala35Ser) variant of SQSTM1 (Sequestosome-1)
A35S (p.Ala35Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- gnomAD 5-179821039-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- CADD 23.00
- PolyPhen-2 0.74
- SIFT 0.74
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.02
- Literature evidence available