A35P (p.Ala35Pro) variant of SQSTM1 (Sequestosome-1)
A35P (p.Ala35Pro) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- gnomAD 5-179821036-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 26.10
- 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 -1.02
- Literature evidence available