D23N (p.Asp23Asn) variant of POLE (Q07864)
D23N (p.Asp23Asn) 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 0.38 / 1. The record also includes population frequency data and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- TOPMed rs970095477
- gnomAD rs970095477
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- CADD 22.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available