R21L (p.Arg21Leu) variant of SQSTM1 (Sequestosome-1)
R21L (p.Arg21Leu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- gnomAD 5-179820998-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.02
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.554
- Literature evidence available