D41E (p.Asp41Glu) variant of CHEK1 (O14757)
D41E (p.Asp41Glu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- rs749034825
- gnomAD 11-125625886-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.69
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available