R21G (p.Arg21Gly) variant of SQSTM1 (Sequestosome-1)
R21G (p.Arg21Gly) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- gnomAD 5-179820997-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.06
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.554
- Literature evidence available