A2T (p.Ala2Thr) variant of SQSTM1 (Sequestosome-1)
A2T (p.Ala2Thr) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 5-179820940-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- CADD 22.60
- PolyPhen-2 0.15
- SIFT 0.01
- 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