D41A (p.Asp41Ala) variant of CHEK1 (O14757)
D41A (p.Asp41Ala) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D41A (p.Asp41Ala) variant details
- p.Asp41Ala
- rs925840558
- gnomAD 11-125625885-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0956
- CADD 2.11
- Most common in the Ashkenazi Jewish population (allele frequency 5e-05)
- Structural context available
- Literature evidence available