D9H (p.Asp9His) variant of CCNE1 (G1/S-specific cyclin-E1)
D9H (p.Asp9His) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D9H (p.Asp9His) variant details
- p.Asp9His
- ESP rs377233800
- ExAC rs377233800
- TOPMed rs377233800
- gnomAD rs377233800
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.09
- CADD 32.00
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available