A26L (p.Ala26Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
A26L (p.Ala26Leu) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A26L (p.Ala26Leu) variant details
- p.Ala26Leu
- gnomAD 19-29812736-TCTCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 26.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available