K13M (p.Lys13Met) variant of SQSTM1 (Sequestosome-1)
K13M (p.Lys13Met) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K13M (p.Lys13Met) variant details
- p.Lys13Met
- gnomAD 5-179820974-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.33
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.63
- Literature evidence available