E43Q (p.Glu43Gln) variant of CETP (P11597)
E43Q (p.Glu43Gln) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- gnomAD 16-56963018-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 17.60
- PolyPhen-2 0.51
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available