R18L (p.Arg18Leu) variant of SQSTM1 (Sequestosome-1)
R18L (p.Arg18Leu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- gnomAD 5-179820989-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.20
- CADD 25.80
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.0607
- Literature evidence available