T50I (p.Thr50Ile) variant of CETP (P11597)
T50I (p.Thr50Ile) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- TOPMed rs1294649999
- gnomAD rs1294649999
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- CADD 18.50
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available