C18S (p.Cys18Ser) variant of CETP (P11597)
C18S (p.Cys18Ser) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- gnomAD 16-56962031-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.04
- CADD 12.80
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available