L4P (p.Leu4Pro) variant of SQSTM1 (Sequestosome-1)
L4P (p.Leu4Pro) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 5-179820947-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.37
- CADD 27.60
- PolyPhen-2 0.71
- SIFT 0.13
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.404
- Literature evidence available