K33N (p.Lys33Asn) variant of POLE (Q07864)
K33N (p.Lys33Asn) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- TOPMed rs1270401168
- gnomAD rs1270401168
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available