K51* (p.Lys51Ter) variant of KRIT1 (O00522)
K51* (p.Lys51Ter) in KRIT1 (O00522) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K51* (p.Lys51Ter) variant details
- p.Lys51Ter
- ExAC rs754979248
- gnomAD rs754979248
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available