K18N (p.Lys18Asn) variant of BCL10 (B-cell lymphoma/leukemia 10)
K18N (p.Lys18Asn) in BCL10 (B-cell lymphoma/leukemia 10) 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 0.44 / 1. The record also includes population frequency data.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- ExAC rs757265980
- TOPMed rs757265980
- gnomAD rs757265980
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)