V39L (p.Val39Leu) variant of CETP (P11597)
V39L (p.Val39Leu) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- ExAC rs766986850
- TOPMed rs766986850
- gnomAD rs766986850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.08
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available