A2S (p.Ala2Ser) variant of SQSTM1 (Sequestosome-1)
A2S (p.Ala2Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- TOPMed rs1208662086
- gnomAD rs1208662086
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.02
- CADD 18.90
- PolyPhen-2 0.12
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.952