S56R (p.Ser56Arg) variant of CETP (P11597)
S56R (p.Ser56Arg) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- TOPMed rs1344354869
- gnomAD rs1344354869
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- CADD 6.93
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available