Y123* (p.Tyr123Ter) variant of KRIT1 (O00522)
Y123* (p.Tyr123Ter) in KRIT1 (O00522) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y123* (p.Tyr123Ter) variant details
- p.Tyr123Ter
- cosmic curated COSV60668
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 34.00
- Population evidence available
- Structural context available