D19H (p.Asp19His) variant of CCNE1 (G1/S-specific cyclin-E1)
D19H (p.Asp19His) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- ExAC rs749906913
- TOPMed rs749906913
- gnomAD rs749906913
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 25.00
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available