D19V (p.Asp19Val) variant of CCNE1 (G1/S-specific cyclin-E1)
D19V (p.Asp19Val) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- TOPMed rs1469198229
- gnomAD rs1469198229
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available