D43E (p.Asp43Glu) variant of CCNE1 (G1/S-specific cyclin-E1)
D43E (p.Asp43Glu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- ExAC rs759252695
- TOPMed rs759252695
- gnomAD rs759252695
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available