Y33* (p.Tyr33Ter) variant of KRIT1 (O00522)
Y33* (p.Tyr33Ter) in KRIT1 (O00522) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- TOPMed rs1273978810
- gnomAD rs1273978810
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 26.80
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available