E63Q (p.Glu63Gln) variant of CETP (P11597)
E63Q (p.Glu63Gln) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- gnomAD 16-56963078-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.15
- CADD 17.30
- PolyPhen-2 0.50
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available