K64R (p.Lys64Arg) variant of CETP (P11597)
K64R (p.Lys64Arg) 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 0.13 / 1. The record also includes population frequency data and structural context.
K64R (p.Lys64Arg) variant details
- p.Lys64Arg
- rs2543635386
- ClinGen CA395996794
- ClinVar RCV003868307
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available