E36G (p.Glu36Gly) variant of SQSTM1 (Sequestosome-1)
E36G (p.Glu36Gly) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- gnomAD 5-179821043-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.467
- Literature evidence available