T5A (p.Thr5Ala) variant of SQSTM1 (Sequestosome-1)
T5A (p.Thr5Ala) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD rs1488103357
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 4.9e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.382