P29L (p.Pro29Leu) variant of SQSTM1 (Sequestosome-1)
P29L (p.Pro29Leu) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- Ensembl rs1012113887
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.904