L38Q (p.Leu38Gln) variant of CETP (P11597)
L38Q (p.Leu38Gln) in CETP (P11597) is a missense change. 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.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- ExAC rs761381765
- gnomAD rs761381765
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available