W68* (p.Trp68Ter) variant of KCNJ11 (Q14654)
W68* (p.Trp68Ter) in KCNJ11 (Q14654) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W68* (p.Trp68Ter) variant details
- p.Trp68Ter
- gnomAD 11-17387889-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 37.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available