D10A (p.Asp10Ala) variant of CHEK1 (O14757)
D10A (p.Asp10Ala) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D10A (p.Asp10Ala) variant details
- p.Asp10Ala
- rs769608055
- gnomAD 11-125626796-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available