I39F (p.Ile39Phe) variant of CHEK1 (O14757)
I39F (p.Ile39Phe) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I39F (p.Ile39Phe) variant details
- p.Ile39Phe
- gnomAD 11-125625839-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.55
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available