T8I (p.Thr8Ile) variant of CETP (P11597)
T8I (p.Thr8Ile) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hyperalphalipoproteinemia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- rs991188482
- ClinGen CA281516602
- ClinVar RCV003388677
- ClinVar RCV005104280
- Uncertain significance
- not specified; Hyperalphalipoproteinemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0903
- REVEL 0.03
- CADD 7.80
- PolyPhen-2 0.04
- SIFT 0.42
- ClinVar: Uncertain significance (not specified; Hyperalphalipoproteinemia 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: CETP-Related Hyperalphalipoproteinemia. (PMID 40339105)