V72L (p.Val72Leu) variant of CETP (P11597)
V72L (p.Val72Leu) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperalphalipoproteinemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- rs767785661
- ClinGen CA10647850
- ClinVar RCV000296497
- ExAC rs767785661
- Uncertain significance
- Hyperalphalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.23
- CADD 17.60
- PolyPhen-2 0.49
- SIFT 0.13
- ClinVar: Uncertain significance (Hyperalphalipoproteinemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available