N72K (p.Asn72Lys) variant of BTK (Tyrosine-protein kinase BTK)
N72K (p.Asn72Lys) in BTK (Tyrosine-protein kinase BTK) 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 0.28 / 1. The record also includes population frequency data and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- rs1555980789
- ClinGen CA413938762
- ClinVar RCV001203879
- gnomAD rs1555980789
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.27
- CADD 22.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available