E33E (p.Glu33Glu) variant of CHEK1 (O14757)
E33E (p.Glu33Glu) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E33E (p.Glu33Glu) variant details
- p.Glu33Glu
- rs1479304104
- gnomAD 11-125625877-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 5.98
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available