S56A (p.Ser56Ala) variant of CETP (P11597)
S56A (p.Ser56Ala) in CETP (P11597) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S56A (p.Ser56Ala) variant details
- p.Ser56Ala
- rs753876598
- gnomAD 16-56963054-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available