A8T (p.Ala8Thr) variant of SQSTM1 (Sequestosome-1)
A8T (p.Ala8Thr) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs745545107
- ExAC rs745545107
- TOPMed rs745545107
- gnomAD rs745545107
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.28
- CADD 26.00
- PolyPhen-2 0.24
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.068
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)