D19A (p.Asp19Ala) variant of CCNE1 (G1/S-specific cyclin-E1)
D19A (p.Asp19Ala) 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.
D19A (p.Asp19Ala) variant details
- p.Asp19Ala
- TOPMed rs1469198229
- gnomAD rs1469198229
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available