K7R (p.Lys7Arg) variant of SQSTM1 (Sequestosome-1)
K7R (p.Lys7Arg) 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.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 5-179820956-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- CADD 25.30
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.177
- Literature evidence available