R21K (p.Arg21Lys) variant of POLE (Q07864)
R21K (p.Arg21Lys) in POLE (Q07864) 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 0.28 / 1. The record also includes population frequency data and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- rs1365779443
- ClinGen CA387373273
- ClinVar RCV003541150
- TOPMed rs1365779443
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available