E44A (p.Glu44Ala) variant of CCNE1 (G1/S-specific cyclin-E1)
E44A (p.Glu44Ala) 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, published literature, and structural context.
E44A (p.Glu44Ala) variant details
- p.Glu44Ala
- gnomAD 19-29812988-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.70
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available