T8N (p.Thr8Asn) variant of CETP (P11597)
T8N (p.Thr8Asn) 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.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- TOPMed rs991188482
- gnomAD rs991188482
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- REVEL 0.03
- CADD 8.46
- PolyPhen-2 0.02
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available