R54Q (p.Arg54Gln) variant of CETP (P11597)
R54Q (p.Arg54Gln) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- ExAC rs755405744
- TOPMed rs755405744
- gnomAD rs755405744
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.10
- CADD 11.20
- PolyPhen-2 0.34
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available