A10V (p.Ala10Val) variant of CCNE1 (G1/S-specific cyclin-E1)
A10V (p.Ala10Val) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- TOPMed rs1242761919
- gnomAD rs1242761919
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available