A19A (p.Ala19Ala) variant of CHEK1 (O14757)
A19A (p.Ala19Ala) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs772496915
- gnomAD 11-125625817-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available