L12V (p.Leu12Val) variant of CETP (P11597)
L12V (p.Leu12Val) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 16-56962013-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.77
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available