A45A (p.Ala45Ala) variant of CHEK1 (O14757)
A45A (p.Ala45Ala) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A45A (p.Ala45Ala) variant details
- p.Ala45Ala
- rs1940572431
- gnomAD 11-125625901-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.33
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available