T5S (p.Thr5Ser) variant of CETP (P11597)
T5S (p.Thr5Ser) in CETP (P11597) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- rs766825140
- gnomAD 16-56961990-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 16.40
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available