R31A (p.Arg31Ala) variant of CETP (P11597)
R31A (p.Arg31Ala) in CETP (P11597) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R31A (p.Arg31Ala) variant details
- p.Arg31Ala
- gnomAD 16-56962068-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 22.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available