A2A (p.Ala2Ala) variant of SQSTM1 (Sequestosome-1)
A2A (p.Ala2Ala) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 5-179820942-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.952
- Literature evidence available