P29H (p.Pro29His) variant of SQSTM1 (Sequestosome-1)
P29H (p.Pro29His) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P29H (p.Pro29His) variant details
- p.Pro29His
- gnomAD 5-179821022-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.904
- Literature evidence available