Q96* (p.Gln96Ter) variant of CDKN1C (P49918)
Q96* (p.Gln96Ter) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- rs868414645
- gnomAD 11-2884062-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available