R54P (p.Arg54Pro) variant of CETP (P11597)
R54P (p.Arg54Pro) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- ExAC rs755405744
- TOPMed rs755405744
- gnomAD rs755405744
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.13
- CADD 15.60
- PolyPhen-2 0.10
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available