E33D (p.Glu33Asp) variant of CHEK1 (O14757)
E33D (p.Glu33Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- rs1479304104
- gnomAD 11-125625877-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 14.70
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available