R31P (p.Arg31Pro) variant of CETP (P11597)
R31P (p.Arg31Pro) in CETP (P11597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- ESP rs147758502
- ExAC rs147758502
- TOPMed rs147758502
- gnomAD rs147758502
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.36
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available