D9V (p.Asp9Val) variant of CCNE1 (G1/S-specific cyclin-E1)
D9V (p.Asp9Val) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D9V (p.Asp9Val) variant details
- p.Asp9Val
- gnomAD 19-29812690-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available