A10R (p.Ala10Arg) variant of CCNE1 (G1/S-specific cyclin-E1)
A10R (p.Ala10Arg) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A10R (p.Ala10Arg) variant details
- p.Ala10Arg
- gnomAD 19-29812692-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available