E3* (p.Glu3Ter) variant of CDKN1A (P38936)
E3* (p.Glu3Ter) in CDKN1A (P38936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 22-46248245-C-CA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available