T42L (p.Thr42Leu) variant of CDKN1B (P46527)
T42L (p.Thr42Leu) in CDKN1B (P46527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T42L (p.Thr42Leu) variant details
- p.Thr42Leu
- gnomAD 12-12717961-TAACC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available