V29L (p.Val29Leu) variant of CETP (P11597)
V29L (p.Val29Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ExAC rs747564264
- TOPMed rs747564264
- gnomAD rs747564264
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available