K6* (p.Lys6Ter) variant of TAFAZZIN (Q16635)
K6* (p.Lys6Ter) in TAFAZZIN (Q16635) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- rs1557191627
- gnomAD X-154413275-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 4.95
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available