E2A (p.Glu2Ala) variant of CCND1 (G1/S-specific cyclin-D1)
E2A (p.Glu2Ala) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- Ensembl rs1855696258
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available