I39I (p.Ile39Ile) variant of CHEK1 (O14757)
I39I (p.Ile39Ile) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I39I (p.Ile39Ile) variant details
- p.Ile39Ile
- rs1591387955
- gnomAD 11-125625841-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.09
- CADD 1.32
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available