K66* (p.Lys66Ter) variant of CHAMP1 (Q96JM3)
K66* (p.Lys66Ter) in CHAMP1 (Q96JM3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K66* (p.Lys66Ter) variant details
- p.Lys66Ter
- ExAC rs781942990
- TOPMed rs781942990
- gnomAD rs781942990
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 35.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available