A8A (p.Ala8Ala) variant of SQSTM1 (Sequestosome-1)
A8A (p.Ala8Ala) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1175359430
- gnomAD 5-179820960-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 15.90
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.068
- Literature evidence available