T8S (p.Thr8Ser) variant of CETP (P11597)
T8S (p.Thr8Ser) in CETP (P11597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- TOPMed rs991188482
- gnomAD rs991188482
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0873
- REVEL 0.03
- CADD 7.26
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available