G12G (p.Gly12Gly) variant of SQSTM1 (Sequestosome-1)
G12G (p.Gly12Gly) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- rs770428754
- gnomAD 5-179820972-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 14.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849
- Literature evidence available