K51* (p.Lys51Ter) variant of SIX1 (Homeobox protein SIX1)
K51* (p.Lys51Ter) in SIX1 (Homeobox protein SIX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K51* (p.Lys51Ter) variant details
- p.Lys51Ter
- gnomAD 14-60649039-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available