Y92* (p.Tyr92Ter) variant of KCNA2 (P16389)
Y92* (p.Tyr92Ter) in KCNA2 (P16389) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y92* (p.Tyr92Ter) variant details
- p.Tyr92Ter
- gnomAD 1-110602009-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 14.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available