R31C (p.Arg31Cys) variant of CETP (P11597)
R31C (p.Arg31Cys) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs777093455
- ClinGen CA8070746
- ClinVar RCV001904293
- ExAC rs777093455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.091)
- Structural context available