S10E (p.Ser10Glu) variant of CDKN1B (P46527)
S10E (p.Ser10Glu) in CDKN1B (P46527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S10E (p.Ser10Glu) variant details
- p.Ser10Glu
- gnomAD 12-12717863-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available